Variant report

Variant	rs73168026
Chromosome Location	chr7:149411262-149411263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr7:149411239-149413109	IMR90	lung:	n/a	chr7:149411976-149411986
2	ZBTB7A	chr7:149411216-149412382	K562	blood:	n/a	n/a
3	REST	chr7:149411237-149412420	H1-neurons	neurons:	n/a	n/a
4	MAX	chr7:149411122-149411828	H1-hESC	embryonic stem cell:	n/a	n/a
5	NRF1	chr7:149411242-149412642	SK-N-SH	brain:	n/a	chr7:149411480-149411489 chr7:149412083-149412097
6	RUNX3	chr7:149411234-149411935	GM12878	blood:	n/a	n/a
7	CREB1	chr7:149411220-149412402	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr7:149411239-149411811	H1-hESC	embryonic stem cell:	n/a	n/a
9	SETDB1	chr7:149410362-149411829	K562	blood:	n/a	chr7:149411590-149411614
10	GATA2	chr7:149411099-149411868	SH-SY5Y	brain:	n/a	n/a
11	E2F6	chr7:149410854-149411771	H1-hESC	embryonic stem cell:	n/a	chr7:149410926-149410933 chr7:149411480-149411489 chr7:149410988-149410997
12	MAX	chr7:149411025-149412523	GM12878	blood:	n/a	chr7:149411976-149411986
13	MXI1	chr7:149410868-149412535	IMR90	lung:	n/a	n/a
14	POLR2A	chr7:149411212-149412362	GM19193	blood:	n/a	n/a
15	MAX	chr7:149411203-149412441	HepG2	liver:	n/a	chr7:149411976-149411986
16	ELF1	chr7:149411210-149412533	GM12878	blood:	n/a	chr7:149411590-149411602 chr7:149411825-149411837
17	E2F6	chr7:149411103-149411622	H1-hESC	embryonic stem cell:	n/a	chr7:149411480-149411489
18	CREB1	chr7:149411164-149412390	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr7:149411175-149411912	A549	lung:	n/a	n/a
20	MAX	chr7:149411251-149411939	MCF-7	breast:	n/a	n/a
21	MAX	chr7:149411175-149412523	A549	lung:	n/a	chr7:149411976-149411986
22	MAX	chr7:149411121-149411837	H1-hESC	embryonic stem cell:	n/a	n/a
23	HMGN3	chr7:149410882-149412361	K562	blood:	n/a	n/a
24	MXI1	chr7:149411198-149411549	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:149411222-149411281	ProgFib	skin:	n/a	n/a
26	CBX3	chr7:149411059-149411911	K562	blood:	n/a	n/a
27	MTA3	chr7:149411214-149411781	GM12878	blood:	n/a	n/a
28	CCNT2	chr7:149411190-149413009	K562	blood:	n/a	chr7:149412487-149412496

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149411256-149411306	HIPEpiC	eye:	n/a
2	chr7:149411256-149411306	NHBE	bronchial:	n/a
3	chr7:149411256-149411306	SAEC	small airway:	n/a
4	chr7:149411256-149411306	U87	brain:	n/a
5	chr7:149411256-149411306	HCF	heart:	n/a
6	chr7:149411256-149411306	Hepatocyte	liver:	n/a
7	chr7:149411256-149411306	GM06990	blood:	n/a
8	chr7:149411256-149411306	HL-60	blood:	n/a
9	chr7:149411256-149411306	PrEC	prostate:	n/a
10	chr7:149411256-149411306	AG10803	skin:	n/a
11	chr7:149411256-149411306	GM19239	blood:	n/a
12	chr7:149411256-149411306	A549	lung:	n/a
13	chr7:149411256-149411306	HCPEpiC	choroid plexus:	n/a
14	chr7:149411256-149411306	SK-N-SH	brain:	n/a
15	chr7:149411256-149411306	NT2-D1	testis:	n/a
16	chr7:149411256-149411306	SKMC	muscle:	n/a
17	chr7:149411256-149411306	Caco-2	colon:	n/a
18	chr7:149411256-149411306	H1-hESC	embryonic stem cell:	embryo
19	chr7:149411256-149411306	HUVEC	blood vessel:	n/a
20	chr7:149411256-149411306	Jurkat	blood:	n/a
21	chr7:149411256-149411306	NHDF-neo	bronchial:	n/a
22	chr7:149411256-149411306	Hela-S3	cervix:	n/a
23	chr7:149411256-149411306	SK-N-SH_RA	brain:	n/a
24	chr7:149411256-149411306	HPAEpiC	pulmonary alveolar:	n/a
25	chr7:149411256-149411306	HepG2	liver:	n/a
26	chr7:149411256-149411306	AG09319	gingival:	n/a
27	chr7:149411256-149411306	ECC-1	luminal epithelium:	n/a
28	chr7:149411256-149411306	NH-A	brain:	n/a
29	chr7:149411256-149411306	GM12891	blood:	n/a
30	chr7:149411256-149411306	MCF-7	breast:	n/a
31	chr7:149411256-149411306	CMK	blood:	n/a
32	chr7:149411256-149411306	LNCaP	prostate:	n/a
33	chr7:149411256-149411306	HRE	kidney:	n/a
34	chr7:149411256-149411306	GM12892	blood:	n/a
35	chr7:149411256-149411306	HRCEpiC	kidney:	n/a
36	chr7:149411256-149411306	RPTEC	kidney:	n/a
37	chr7:149411256-149411306	AG04449	skin:	fetal
38	chr7:149411256-149411306	T-47D	breast:	n/a
39	chr7:149411256-149411306	PFSK-1	brain:	n/a
40	chr7:149411256-149411306	GM12878	blood:	n/a
41	chr7:149411256-149411306	K562	blood:	n/a
42	chr7:149411256-149411306	AoSMC	blood vessel:	n/a
43	chr7:149411256-149411306	HEEpiC	esophagus:	n/a
44	chr7:149411256-149411306	HNPCEpiC	eye:	n/a
45	chr7:149411256-149411306	HMEC	breast:	n/a
46	chr7:149411256-149411306	PANC-1	pancreas:	n/a
47	chr7:149411256-149411306	MCF10A-Er-Src	breast:	n/a
48	chr7:149411256-149411306	BJ	skin:	n/a
49	chr7:149411256-149411306	HRPEpiC	eye:	n/a
50	chr7:149411256-149411306	NB4	blood:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149410803..149414471-chr7:149419495..149421257,3	K562	blood:
2	chr7:149409957..149411791-chr7:149503300..149505720,2	K562	blood:
3	chr7:149319988..149323136-chr7:149410219..149413557,5	MCF-7	breast:
4	chr7:149320427..149322240-chr7:149410795..149412793,2	MCF-7	breast:
5	chr7:149404563..149406665-chr7:149410046..149411714,2	MCF-7	breast:
6	chr7:149395110..149397446-chr7:149409565..149411278,3	K562	blood:
7	chr7:149395351..149398006-chr7:149410098..149411759,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRBA1	TF binding region
KRBA1	CpG island
ENSG00000133624	Chromatin interaction
ENSG00000133619	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73168027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021849	chr7:149230929-149422239	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1034350	chr7:149264094-149666356	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv539190	chr7:149264094-149666356	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1023901	chr7:149364044-149747442	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv539191	chr7:149364044-149747442	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv469576	chr7:149379626-149563233	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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 target site	21 gene(s)	inside rSNPs	diseases
7	nsv1031581	chr7:149386249-149570178	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv539192	chr7:149386249-149570178	Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv465199	chr7:149398065-149462621	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv608979	chr7:149398065-149462621	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv3359659	chr7:149410544-149413392	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	esv3424364	chr7:149410869-149412967	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149410400-149412200	Enhancers	Fetal Brain Male	brain
2	chr7:149410600-149411400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:149410800-149411400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr7:149410800-149411400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:149410800-149411400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:149410800-149411400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr7:149410800-149411400	Enhancers	Lung	lung
8	chr7:149410800-149411600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr7:149410800-149411600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr7:149410800-149411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:149410800-149411600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:149410800-149411600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:149410800-149411800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr7:149410800-149412600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr7:149410800-149412600	Active TSS	Brain Substantia Nigra	brain
16	chr7:149410800-149413000	Active TSS	H9 Cell Line	embryonic stem cell
17	chr7:149411000-149411400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr7:149411000-149411400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:149411000-149411400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr7:149411000-149411400	Flanking Active TSS	Brain Angular Gyrus	brain
21	chr7:149411000-149411400	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr7:149411000-149411400	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr7:149411000-149411400	Flanking Active TSS	Brain Hippocampus Middle	brain
24	chr7:149411000-149411400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:149411000-149411400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
26	chr7:149411000-149411400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
27	chr7:149411000-149411400	Flanking Active TSS	Ovary	ovary
28	chr7:149411000-149411400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr7:149411000-149411400	Enhancers	Stomach Mucosa	stomach
30	chr7:149411000-149411400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
31	chr7:149411000-149411600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
32	chr7:149411000-149411600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:149411000-149411600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:149411000-149411600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr7:149411000-149411600	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr7:149411000-149411600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr7:149411000-149411600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:149411000-149411600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr7:149411000-149411600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:149411000-149411600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr7:149411000-149411600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:149411000-149411600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:149411000-149411600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr7:149411000-149411600	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr7:149411000-149411600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr7:149411000-149411600	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr7:149411000-149411600	Flanking Active TSS	Placenta	Placenta
48	chr7:149411000-149411600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr7:149411000-149411600	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr7:149411000-149411800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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