Variant report

Variant	rs531630642
Chromosome Location	chr7:128045581-128045582
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:119)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:119 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:128045569-128046378	HUVEC	blood vessel:	n/a	n/a
2	YY1	chr7:128045538-128046158	HepG2	liver:	n/a	chr7:128046007-128046016 chr7:128046144-128046158 chr7:128046143-128046152 chr7:128046019-128046033 chr7:128046085-128046094
3	MYC	chr7:128045216-128046209	A549	lung:	n/a	n/a
4	MAZ	chr7:128045015-128046571	Hela-S3	cervix:	n/a	n/a
5	CHD2	chr7:128045148-128045843	Hela-S3	cervix:	n/a	chr7:128045736-128045746
6	MAX	chr7:128044953-128046164	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr7:128045567-128046277	HUVEC	blood vessel:	n/a	n/a
8	E2F6	chr7:128045540-128046256	K562	blood:	n/a	n/a
9	MAX	chr7:128045164-128046311	HepG2	liver:	n/a	n/a
10	MAX	chr7:128045033-128046341	NB4	blood:	n/a	n/a
11	MYC	chr7:128045209-128046325	K562	blood:	n/a	n/a
12	POLR2A	chr7:128045040-128046024	Hela-S3	cervix:	n/a	n/a
13	BHLHE40	chr7:128045540-128046289	K562	blood:	n/a	chr7:128045656-128045672 chr7:128046012-128046028
14	MAX	chr7:128044919-128046296	MCF-7	breast:	n/a	n/a
15	MAX	chr7:128044941-128046323	SK-N-SH	brain:	n/a	n/a
16	MAX	chr7:128045235-128046317	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr7:128045094-128045885	A549	lung:	n/a	n/a
18	MAZ	chr7:128045026-128046705	IMR90	lung:	n/a	n/a
19	MAX	chr7:128045216-128046316	K562	blood:	n/a	n/a
20	GABPA	chr7:128045505-128045705	GM12878	blood:	n/a	n/a
21	POLR2A	chr7:128044942-128046060	Hela-S3	cervix:	n/a	n/a
22	MAX	chr7:128045231-128046325	H1-hESC	embryonic stem cell:	n/a	n/a
23	PML	chr7:128045359-128046006	GM12878	blood:	n/a	n/a
24	CHD2	chr7:128045293-128045892	GM12878	blood:	n/a	chr7:128045736-128045746
25	MYC	chr7:128045579-128045755	HUVEC	blood vessel:	n/a	n/a
26	RUNX3	chr7:128045467-128045891	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:128045103-128046140	GM18505	blood:	n/a	n/a
28	POLR2A	chr7:128044958-128046324	Raji	blood:	n/a	n/a
29	GABPA	chr7:128045482-128045884	MCF-7	breast:	n/a	chr7:128045745-128045754
30	ELF1	chr7:128045182-128045805	K562	blood:	n/a	n/a
31	ZNF263	chr7:128044906-128045624	HEK293-T-REx	kidney:	n/a	n/a
32	BACH1	chr7:128045522-128045877	H1-hESC	embryonic stem cell:	n/a	n/a
33	GABPA	chr7:128045500-128045746	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr7:128045580-128046231	HCT-116	colon:	n/a	n/a
35	MTA3	chr7:128044861-128045793	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:128045489-128046039	Hela-S3	cervix:	n/a	n/a
37	MAX	chr7:128044754-128046287	K562	blood:	n/a	n/a
38	ZBTB7A	chr7:128045087-128046327	K562	blood:	n/a	n/a
39	POLR2A	chr7:128044287-128046496	SK-N-MC	brain:	n/a	n/a
40	HEY1	chr7:128044991-128046162	K562	blood:	n/a	chr7:128046003-128046018 chr7:128046145-128046160 chr7:128045734-128045749
41	MYC	chr7:128045572-128046117	MCF-7	breast:	n/a	n/a
42	POLR2A	chr7:128045556-128046067	A549	lung:	n/a	n/a
43	ZEB1	chr7:128045493-128045793	GM12878	blood:	n/a	n/a
44	POLR2A	chr7:128044968-128045934	K562	blood:	n/a	n/a
45	YY1	chr7:128045520-128045685	K562	blood:	n/a	n/a
46	ZBTB7A	chr7:128045043-128046358	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr7:128045252-128046009	H1-hESC	embryonic stem cell:	n/a	n/a
48	GABPA	chr7:128045357-128046016	K562	blood:	n/a	chr7:128045745-128045754
49	TAF1	chr7:128045514-128046172	K562	blood:	n/a	n/a
50	ELF1	chr7:128044957-128045787	MCF-7	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:128045543-128045593	T-47D	breast:	n/a
2	chr7:128045543-128045593	NH-A	brain:	n/a
3	chr7:128045543-128045593	CMK	blood:	n/a
4	chr7:128045543-128045593	HRCEpiC	kidney:	n/a
5	chr7:128045543-128045593	ECC-1	luminal epithelium:	n/a
6	chr7:128045543-128045593	GM12878	blood:	n/a
7	chr7:128045543-128045593	AG10803	skin:	n/a
8	chr7:128045543-128045593	A549	lung:	n/a
9	chr7:128045543-128045593	HRE	kidney:	n/a
10	chr7:128045543-128045593	NT2-D1	testis:	n/a
11	chr7:128045543-128045593	HUVEC	blood vessel:	n/a
12	chr7:128045543-128045593	HCF	heart:	n/a
13	chr7:128045543-128045593	Caco-2	colon:	n/a
14	chr7:128045543-128045593	BJ	skin:	n/a
15	chr7:128045543-128045593	IMR90	lung:	fetal
16	chr7:128045543-128045593	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:128045543-128045593	HNPCEpiC	eye:	n/a
18	chr7:128045543-128045593	PANC-1	pancreas:	n/a
19	chr7:128045543-128045593	Jurkat	blood:	n/a
20	chr7:128045543-128045593	NHBE	bronchial:	n/a
21	chr7:128045543-128045593	LNCaP	prostate:	n/a
22	chr7:128045543-128045593	SK-N-SH_RA	brain:	n/a
23	chr7:128045543-128045593	AoSMC	blood vessel:	n/a
24	chr7:128045543-128045593	PrEC	prostate:	n/a
25	chr7:128045543-128045593	HMEC	breast:	n/a
26	chr7:128045543-128045593	AG09309	skin:	n/a
27	chr7:128045543-128045593	HCT-116	colon:	n/a
28	chr7:128045543-128045593	AG04450	lung:	fetal
29	chr7:128045543-128045593	HEEpiC	esophagus:	n/a
30	chr7:128045543-128045593	HCM	heart:	n/a
31	chr7:128045543-128045593	K562	blood:	n/a
32	chr7:128045543-128045593	HepG2	liver:	n/a
33	chr7:128045543-128045593	GM06990	blood:	n/a
34	chr7:128045543-128045593	RPTEC	kidney:	n/a
35	chr7:128045543-128045593	NB4	blood:	n/a
36	chr7:128045543-128045593	ProgFib	skin:	n/a
37	chr7:128045543-128045593	AG04449	skin:	fetal
38	chr7:128045543-128045593	SK-N-MC	brain:	n/a
39	chr7:128045543-128045593	Hepatocyte	liver:	n/a
40	chr7:128045543-128045593	GM19239	blood:	n/a
41	chr7:128045543-128045593	PFSK-1	brain:	n/a
42	chr7:128045543-128045593	ovcar-3	ovarian:	n/a
43	chr7:128045543-128045593	NHDF-neo	bronchial:	n/a
44	chr7:128045543-128045593	MCF10A-Er-Src	breast:	n/a
45	chr7:128045543-128045593	HIPEpiC	eye:	n/a
46	chr7:128045543-128045593	GM12891	blood:	n/a
47	chr7:128045543-128045593	HAEpiC	amniotic membrane:	n/a
48	chr7:128045543-128045593	Hela-S3	cervix:	n/a
49	chr7:128045543-128045593	U87	brain:	n/a
50	chr7:128045543-128045593	SK-N-SH	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:132201736..132202370-chr7:128045305..128046107,2	Hela-S3	cervix:
2	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
3	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
4	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
5	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:

No data

Variant related genes	Relation type
IMPDH1	TF binding region
IMPDH1	CpG island
ENSG00000242588	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000238750	Chromatin interaction
ENSG00000164405	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000164404	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv515737	chr7:128044035-128050417	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3355278	chr7:128044741-128047289	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv3391700	chr7:128045116-128047314	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128044000-128045600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
2	chr7:128044000-128045600	Flanking Active TSS	Fetal Brain Female	brain
3	chr7:128044200-128045600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr7:128044200-128045600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr7:128044200-128045600	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
6	chr7:128044200-128045600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr7:128044200-128045600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:128044200-128045600	Flanking Active TSS	HMEC	breast
9	chr7:128044200-128045600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr7:128044200-128045800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:128044200-128045800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr7:128044200-128045800	Flanking Active TSS	Stomach Smooth Muscle	stomach
14	chr7:128044200-128046000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:128044200-128046000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr7:128044400-128045600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
17	chr7:128044400-128045600	Flanking Active TSS	NH-A	brain
18	chr7:128044400-128045600	Flanking Active TSS	NHEK	skin
19	chr7:128044400-128045800	Flanking Active TSS	K562	blood
20	chr7:128044600-128045600	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr7:128044600-128045600	Enhancers	Fetal Heart	heart
22	chr7:128044600-128045600	Flanking Active TSS	HUVEC	blood vessel
23	chr7:128044600-128045800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:128044600-128045800	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr7:128044600-128045800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
26	chr7:128044600-128046000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr7:128044600-128046400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr7:128044800-128045600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:128044800-128045600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr7:128044800-128045600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr7:128044800-128045600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr7:128044800-128045800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:128044800-128045800	Flanking Active TSS	Pancreas	Pancrea
34	chr7:128044800-128046400	Active TSS	HSMM	muscle
35	chr7:128045000-128045600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr7:128045000-128045600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:128045000-128045600	Flanking Active TSS	Primary T cells from cord blood	blood
38	chr7:128045000-128045600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
39	chr7:128045000-128045600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:128045000-128045600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
41	chr7:128045000-128045600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:128045000-128045600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr7:128045000-128045600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr7:128045000-128045600	Enhancers	Liver	Liver
45	chr7:128045000-128045600	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr7:128045000-128045600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr7:128045000-128045600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr7:128045000-128045600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
49	chr7:128045000-128045600	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr7:128045000-128045600	Flanking Active TSS	Fetal Lung	lung

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