Variant report

Variant	rs138300671
Chromosome Location	chr22:23521931-23521932
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr22:23520604-23527305	K562	blood:	n/a	n/a
2	TBL1XR1	chr22:23520619-23523842	K562	blood:	n/a	n/a
3	HDAC2	chr22:23520523-23526205	K562	blood:	n/a	chr22:23521032-23521051
4	POLR2A	chr22:23520633-23526356	K562	blood:	n/a	n/a
5	CUX1	chr22:23520618-23522723	K562	blood:	n/a	chr22:23521379-23521393
6	STAT5A	chr22:23520445-23522610	K562	blood:	n/a	chr22:23521510-23521521 chr22:23522547-23522559
7	EP300	chr22:23520596-23523878	K562	blood:	n/a	chr22:23522854-23522870 chr22:23521047-23521060 chr22:23522997-23523010 chr22:23521637-23521650
8	MYC	chr22:23521693-23523755	K562	blood:	n/a	chr22:23522597-23522607
9	UBTF	chr22:23520613-23526470	K562	blood:	n/a	n/a
10	ELK1	chr22:23521501-23523446	K562	blood:	n/a	n/a
11	ELF1	chr22:23521854-23522488	K562	blood:	n/a	n/a
12	POLR2A	chr22:23521095-23526502	K562	blood:	n/a	n/a
13	POLR2A	chr22:23521777-23523434	K562	blood:	n/a	n/a
14	TAL1	chr22:23520659-23522885	K562	blood:	n/a	n/a
15	TAF1	chr22:23521869-23523821	K562	blood:	n/a	n/a
16	TEAD4	chr22:23520448-23527326	K562	blood:	n/a	n/a
17	POLR2A	chr22:23521572-23527572	K562	blood:	n/a	n/a
18	TBP	chr22:23520623-23526179	K562	blood:	n/a	n/a
19	MAX	chr22:23521486-23525908	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
20	ZBTB7A	chr22:23521531-23525286	K562	blood:	n/a	chr22:23522591-23522599 chr22:23522590-23522598
21	MAX	chr22:23521593-23524918	HepG2	liver:	n/a	chr22:23524440-23524449 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
22	POLR2A	chr22:23521884-23526135	K562	blood:	n/a	n/a
23	BHLHE40	chr22:23521763-23521990	GM12878	blood:	n/a	n/a
24	MXI1	chr22:23521873-23521945	Hela-S3	cervix:	n/a	n/a
25	ETS1	chr22:23521737-23525029	K562	blood:	n/a	chr22:23522665-23522676
26	ZC3H11A	chr22:23520594-23526970	K562	blood:	n/a	n/a
27	MXI1	chr22:23521664-23521948	GM12878	blood:	n/a	n/a
28	FOSL1	chr22:23520529-23522897	K562	blood:	n/a	chr22:23522595-23522604
29	STAT3	chr22:23521628-23521957	MCF10A-Er-Src	breast:	n/a	n/a
30	EBF1	chr22:23521362-23522060	GM12878	blood:	n/a	chr22:23521612-23521621 chr22:23521610-23521621 chr22:23521611-23521621
31	ESR1	chr22:23521497-23521971	ECC-1	luminal epithelium:	n/a	chr22:23521732-23521747 chr22:23521731-23521748
32	MAX	chr22:23520537-23526174	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
33	MAX	chr22:23521643-23523309	HepG2	liver:	n/a	chr22:23522597-23522607
34	GTF2F1	chr22:23520624-23526023	K562	blood:	n/a	n/a
35	MYC	chr22:23520609-23526146	K562	blood:	n/a	chr22:23524440-23524449 chr22:23525734-23525744 chr22:23524440-23524449 chr22:23522597-23522607 chr22:23524441-23524448
36	CBX3	chr22:23520451-23527677	K562	blood:	n/a	chr22:23520879-23520890
37	RAD21	chr22:23520451-23522047	SK-N-SH	brain:	n/a	chr22:23520806-23520816 chr22:23520806-23520818 chr22:23520801-23520820 chr22:23520804-23520817
38	MXI1	chr22:23521576-23523276	HepG2	liver:	n/a	n/a
39	RFX5	chr22:23520628-23522640	K562	blood:	n/a	n/a
40	PML	chr22:23520528-23526389	K562	blood:	n/a	n/a
41	TEAD4	chr22:23520525-23527111	K562	blood:	n/a	n/a
42	POLR2A	chr22:23521544-23525860	K562	blood:	n/a	n/a
43	ZNF263	chr22:23520618-23525299	K562	blood:	n/a	chr22:23521369-23521378 chr22:23524591-23524600 chr22:23524513-23524522 chr22:23524594-23524603
44	HCFC1	chr22:23520599-23526421	K562	blood:	n/a	n/a
45	ARID3A	chr22:23521656-23523361	K562	blood:	n/a	n/a
46	BACH1	chr22:23520646-23522641	K562	blood:	n/a	n/a
47	HEY1	chr22:23521612-23524725	K562	blood:	n/a	chr22:23522874-23522889
48	NR2F2	chr22:23520429-23522955	K562	blood:	n/a	n/a
49	MAFK	chr22:23520595-23522722	K562	blood:	n/a	chr22:23521729-23521739
50	GABPA	chr22:23521539-23525441	K562	blood:	n/a	chr22:23522703-23522712

No.	Distal block	Cell Line	Cell type
1	chr12:120728308..120731053-chr22:23519442..23522442,4	MCF-7	breast:
2	chr22:23521768..23522736-chr22:23592643..23593640,6	K562	blood:
3	chr22:23520289..23523680-chr22:23623216..23625593,134	K562	blood:
4	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
5	chr12:120728297..120729929-chr22:23519462..23522442,4	MCF-7	breast:
6	chr22:23519615..23526434-chr22:23614924..23625964,20	MCF-7	breast:
7	chr22:23521185..23525273-chr22:23592606..23595379,3	MCF-7	breast:
8	chr22:23521575..23523250-chr22:23605169..23607302,2	MCF-7	breast:
9	chr22:23155103..23157714-chr22:23521587..23523946,2	K562	blood:
10	chr22:22899777..22902567-chr22:23521741..23524198,2	K562	blood:
11	chr12:120728333..120732236-chr22:23519442..23524202,7	K562	blood:

Variant related genes	Relation type
BCR	TF binding region
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000226477	Chromatin interaction
ENSG00000230701	Chromatin interaction
ENSG00000185686	Chromatin interaction
ENSG00000220891	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv1058604	chr22:23497533-23545751	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	esv3365113	chr22:23521252-23524950	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	esv3373787	chr22:23521577-23524125	Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
27	esv3375851	chr22:23521902-23524450	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23490400-23522000	Weak transcription	Aorta	Aorta
2	chr22:23516000-23522000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr22:23517800-23522000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:23517800-23522200	Enhancers	GM12878-XiMat	blood
5	chr22:23518000-23522000	Enhancers	Esophagus	oesophagus
6	chr22:23518000-23522200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:23519200-23522200	Enhancers	Primary B cells from peripheral blood	blood
8	chr22:23519400-23522000	Weak transcription	Thymus	Thymus
9	chr22:23519400-23522200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr22:23519600-23522000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:23519600-23522000	Enhancers	Placenta	Placenta
12	chr22:23519600-23522200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:23519800-23522000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr22:23519800-23522000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr22:23519800-23522200	Enhancers	Primary B cells from cord blood	blood
16	chr22:23520600-23522000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr22:23520600-23522000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:23520600-23522000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr22:23520600-23522000	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:23520600-23522000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr22:23520600-23522000	Enhancers	Pancreas	Pancrea
22	chr22:23520600-23522200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:23520600-23522200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr22:23520600-23522200	Bivalent Enhancer	Fetal Muscle Leg	muscle
25	chr22:23520600-23522200	Enhancers	Fetal Thymus	thymus
26	chr22:23520600-23522400	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr22:23520800-23522000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr22:23520800-23522000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr22:23520800-23522000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:23520800-23522000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr22:23520800-23522000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr22:23520800-23522000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr22:23520800-23522000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:23520800-23522000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:23520800-23522000	Enhancers	Brain Substantia Nigra	brain
36	chr22:23520800-23522000	Enhancers	Duodenum Mucosa	Duodenum
37	chr22:23520800-23522000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr22:23520800-23522000	Enhancers	Fetal Brain Male	brain
39	chr22:23520800-23522000	Enhancers	Fetal Intestine Large	intestine
40	chr22:23520800-23522000	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr22:23520800-23522000	Enhancers	Stomach Mucosa	stomach
42	chr22:23520800-23522000	Enhancers	Hela-S3	cervix
43	chr22:23520800-23522000	Enhancers	HMEC	breast
44	chr22:23520800-23522000	Enhancers	HSMMtube	muscle
45	chr22:23520800-23522000	Enhancers	NHDF-Ad	bronchial
46	chr22:23520800-23522000	Enhancers	NHEK	skin
47	chr22:23520800-23522000	Enhancers	NHLF	lung
48	chr22:23520800-23522000	Enhancers	Osteobl	bone
49	chr22:23520800-23522200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr22:23520800-23522200	Enhancers	HUES64 Cell Line	embryonic stem cell

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