Variant report

Variant	rs73711443
Chromosome Location	chr7:98477430-98477431
allele	A/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	NFATC1	chr7:98476917-98477497	GM12878	blood:	n/a	n/a
2	TBP	chr7:98477349-98477622	Hela-S3	cervix:	n/a	chr7:98477569-98477580
3	POLR2A	chr7:98475719-98477686	GM12878	blood:	n/a	n/a
4	GABPA	chr7:98477271-98477671	A549	lung:	n/a	n/a
5	POLR2A	chr7:98477259-98477589	GM12878	blood:	n/a	n/a
6	CTCF	chr7:98477400-98477550	GM06990	blood:	n/a	n/a
7	POLR2A	chr7:98477208-98477568	K562	blood:	n/a	n/a
8	CTCF	chr7:98477380-98477530	GM12865	blood:	n/a	n/a
9	CTCF	chr7:98477345-98477595	MCF-7	breast:	n/a	n/a
10	RUNX3	chr7:98477140-98477920	GM12878	blood:	n/a	n/a
11	CTCF	chr7:98474929-98477868	SK-N-SH	brain:	n/a	chr7:98476232-98476245 chr7:98476099-98476112 chr7:98476407-98476416 chr7:98476096-98476114
12	TBL1XR1	chr7:98477327-98477612	GM12878	blood:	n/a	n/a
13	YY1	chr7:98477257-98477586	GM12891	blood:	n/a	n/a
14	CTCF	chr7:98477360-98477510	GM12868	blood:	n/a	n/a
15	CTCF	chr7:98477420-98477570	HPAF	blood vessel:	n/a	n/a
16	TCF3	chr7:98477351-98477881	GM12878	blood:	n/a	chr7:98477374-98477388 chr7:98477625-98477635 chr7:98477541-98477556
17	POLR2A	chr7:98476882-98477711	GM12878	blood:	n/a	n/a
18	CTCF	chr7:98477380-98477530	GM12878	blood:	n/a	n/a
19	CTCF	chr7:98477400-98477550	GM12873	blood:	n/a	n/a
20	POLR2A	chr7:98475908-98477725	GM18505	blood:	n/a	n/a
21	CTCF	chr7:98477383-98477566	GM10248	blood:	n/a	n/a
22	POLR2A	chr7:98477285-98477565	GM12878	blood:	n/a	n/a
23	ZNF143	chr7:98477320-98477635	K562	blood:	n/a	n/a
24	CTCF	chr7:98477380-98477530	AG10803	skin:	n/a	n/a
25	BHLHE40	chr7:98477222-98477444	K562	blood:	n/a	n/a
26	CTCF	chr7:98477380-98477530	AG04449	skin:	n/a	n/a
27	POLR2A	chr7:98477367-98477535	MCF10A-Er-Src	breast:	n/a	n/a
28	MAFK	chr7:98477340-98477621	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr7:98477287-98477529	Hela-S3	cervix:	n/a	n/a
30	GABPA	chr7:98477346-98477575	HepG2	liver:	n/a	n/a
31	CTCF	chr7:98477388-98477534	ProgFib	skin:	n/a	n/a
32	CTCF	chr7:98477380-98477530	NHEK	skin:	n/a	n/a
33	CTCF	chr7:98477328-98477574	GM10266	blood:	n/a	n/a
34	GABPA	chr7:98477265-98477767	HL-60	blood:	n/a	n/a
35	CTCF	chr7:98477380-98477530	BE2_C	brain:	n/a	n/a
36	CTCF	chr7:98477257-98477610	K562	blood:	n/a	n/a
37	MAX	chr7:98477147-98477722	GM12878	blood:	n/a	n/a
38	GABPA	chr7:98477271-98477625	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr7:98477360-98477510	GM12801	blood:	n/a	n/a
40	ELK1	chr7:98477045-98477640	GM12878	blood:	n/a	n/a
41	CTCF	chr7:98477380-98477530	HRPEpiC	eye:	n/a	n/a
42	YY1	chr7:98477216-98477689	GM12878	blood:	n/a	n/a
43	STAT3	chr7:98477221-98477545	GM12878	blood:	n/a	chr7:98477240-98477252
44	ZNF143	chr7:98477325-98477600	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr7:98477320-98477470	HCT-116	colon:	n/a	n/a
46	POLR2A	chr7:98475250-98477540	K562	blood:	n/a	n/a
47	CTCF	chr7:98477400-98477550	HBMEC	blood vessel:	n/a	n/a
48	GABPA	chr7:98477074-98477790	K562	blood:	n/a	n/a
49	POLR2A	chr7:98477193-98477627	HCT-116	colon:	n/a	n/a
50	CTCF	chr7:98477372-98477611	LNCaP	prostate:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98028301..98030360-chr7:98475060..98477669,2	K562	blood:
2	chr7:98461246..98463791-chr7:98476120..98478265,2	K562	blood:
3	chr7:98028440..98031404-chr7:98475727..98477431,2	MCF-7	breast:
4	chr7:98474512..98479039-chr7:98480713..98484899,10	K562	blood:

Variant related genes	Relation type
MIR3609	TF binding region
TRRAP	TF binding region
ENSG00000006453	Chromatin interaction
ENSG00000238459	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55841526	1.00[AMR][1000 genomes]
rs57974063	1.00[AFR][1000 genomes]
rs58521095	1.00[AFR][1000 genomes]
rs59466550	1.00[AFR][1000 genomes]
rs59481990	1.00[AFR][1000 genomes]
rs73711463	1.00[AFR][1000 genomes]
rs73711468	1.00[AFR][1000 genomes]
rs73711469	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98475400-98477800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:98475400-98477800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:98475400-98477800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:98475600-98477600	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr7:98475600-98477800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:98475600-98477800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr7:98475800-98477600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:98475800-98477600	Active TSS	Gastric	stomach
9	chr7:98475800-98477600	Active TSS	Pancreas	Pancrea
10	chr7:98475800-98477600	Active TSS	Stomach Mucosa	stomach
11	chr7:98475800-98477600	Active TSS	A549	lung
12	chr7:98475800-98478200	Active TSS	GM12878-XiMat	blood
13	chr7:98476000-98477600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:98476000-98477600	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr7:98476000-98477600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr7:98476000-98477600	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr7:98476000-98477600	Active TSS	Fetal Intestine Small	intestine
18	chr7:98476000-98477800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr7:98476200-98477800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:98476800-98477600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr7:98476800-98477600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
22	chr7:98476800-98477600	Flanking Active TSS	Fetal Brain Male	brain
23	chr7:98476800-98477800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr7:98476800-98477800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr7:98476800-98477800	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr7:98476800-98477800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr7:98476800-98477800	Flanking Active TSS	Liver	Liver
28	chr7:98476800-98478000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr7:98476800-98478000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr7:98476800-98478200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr7:98476800-98478400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:98477000-98477600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:98477000-98477600	Flanking Active TSS	Placenta	Placenta
34	chr7:98477000-98477600	Flanking Active TSS	Fetal Stomach	stomach
35	chr7:98477000-98477800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr7:98477000-98477800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:98477000-98477800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr7:98477000-98477800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr7:98477000-98477800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:98477000-98477800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr7:98477000-98477800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr7:98477000-98477800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:98477000-98477800	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr7:98477000-98477800	Flanking Active TSS	Brain Angular Gyrus	brain
45	chr7:98477000-98477800	Flanking Active TSS	Brain Cingulate Gyrus	brain
46	chr7:98477000-98477800	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr7:98477000-98477800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr7:98477000-98477800	Flanking Active TSS	Brain Substantia Nigra	brain
49	chr7:98477000-98477800	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr7:98477000-98477800	Flanking Active TSS	Fetal Brain Female	brain

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