Variant report

Variant	rs10244034
Chromosome Location	chr7:121036546-121036547
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	POLR2A	chr7:121036094-121036914	K562	blood:	n/a	n/a
2	CTCF	chr7:121036400-121036550	HL-60	blood:	n/a	chr7:121036449-121036462 chr7:121036448-121036464 chr7:121036425-121036438 chr7:121036449-121036462 chr7:121036447-121036465 chr7:121036453-121036462 chr7:121036450-121036460
3	ZBTB7A	chr7:121036314-121036869	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr7:121036088-121036885	HepG2	liver:	n/a	chr7:121036110-121036123
5	POLR2A	chr7:121034875-121036868	GM19193	blood:	n/a	n/a
6	EP300	chr7:121035622-121037155	K562	blood:	n/a	chr7:121035675-121035689 chr7:121036544-121036560 chr7:121036597-121036613 chr7:121036588-121036597 chr7:121036443-121036452 chr7:121036443-121036459 chr7:121036533-121036549 chr7:121035684-121035698 chr7:121037054-121037068
7	CTCF	chr7:121036420-121036570	HPF	lung:	n/a	chr7:121036449-121036462 chr7:121036448-121036464 chr7:121036425-121036438 chr7:121036449-121036462 chr7:121036447-121036465 chr7:121036453-121036462 chr7:121036450-121036460
8	SMC3	chr7:121035508-121036891	GM12878	blood:	n/a	chr7:121036449-121036463 chr7:121036449-121036459
9	CREB1	chr7:121036292-121036778	ECC-1	luminal epithelium:	n/a	n/a
10	GATA3	chr7:121036206-121036882	MCF-7	breast:	n/a	n/a
11	POU2F2	chr7:121035487-121036848	GM12878	blood:	n/a	chr7:121036297-121036309 chr7:121036589-121036601
12	ARID3A	chr7:121036307-121036945	K562	blood:	n/a	n/a
13	EGR1	chr7:121035910-121036851	ECC-1	luminal epithelium:	n/a	chr7:121036395-121036406 chr7:121036296-121036306 chr7:121036530-121036540 chr7:121036442-121036452 chr7:121036395-121036405 chr7:121036002-121036012 chr7:121036532-121036545 chr7:121036426-121036436 chr7:121036151-121036161 chr7:121036393-121036407 chr7:121035963-121035973
14	REST	chr7:121036175-121036622	PFSK-1	brain:	n/a	n/a
15	TEAD4	chr7:121036199-121036668	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr7:121035952-121036906	A549	lung:	n/a	n/a
17	HDAC2	chr7:121035993-121036911	K562	blood:	n/a	n/a
18	TAF1	chr7:121035943-121036910	A549	lung:	n/a	n/a
19	YY1	chr7:121035958-121036602	GM12891	blood:	n/a	chr7:121036032-121036043 chr7:121035988-121035999 chr7:121036427-121036436 chr7:121035982-121035996 chr7:121036588-121036602 chr7:121036425-121036439 chr7:121036110-121036124 chr7:121035987-121035996 chr7:121036295-121036309 chr7:121036035-121036049
20	POLR2A	chr7:121035321-121036928	IMR90	lung:	n/a	n/a
21	RCOR1	chr7:121035492-121036916	K562	blood:	n/a	n/a
22	POLR2A	chr7:121036002-121036927	U87	brain:	n/a	n/a
23	MYC	chr7:121035457-121036992	A549	lung:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036920-121036928 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
24	PBX3	chr7:121036287-121036738	A549	lung:	n/a	n/a
25	TBP	chr7:121035696-121036768	H1-hESC	embryonic stem cell:	n/a	n/a
26	EGR1	chr7:121035957-121036699	GM12878	blood:	n/a	chr7:121036395-121036406 chr7:121036296-121036306 chr7:121036530-121036540 chr7:121036442-121036452 chr7:121036395-121036405 chr7:121036002-121036012 chr7:121036532-121036545 chr7:121036426-121036436 chr7:121036151-121036161 chr7:121036393-121036407 chr7:121035963-121035973
27	BCLAF1	chr7:121035567-121036818	GM12878	blood:	n/a	chr7:121036589-121036602 chr7:121036426-121036435 chr7:121036290-121036303 chr7:121036593-121036606 chr7:121035986-121035999 chr7:121036589-121036598 chr7:121036443-121036456 chr7:121035985-121035994 chr7:121036590-121036603 chr7:121036333-121036346
28	USF2	chr7:121036514-121036902	K562	blood:	n/a	chr7:121036586-121036602 chr7:121036543-121036559 chr7:121036572-121036583
29	PAX5	chr7:121035837-121036733	GM12892	blood:	n/a	chr7:121036524-121036551
30	POLR2A	chr7:121035571-121036875	Hela-S3	cervix:	n/a	n/a
31	MTA3	chr7:121035420-121036929	GM12878	blood:	n/a	n/a
32	MAZ	chr7:121035526-121036789	GM12878	blood:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
33	SIN3AK20	chr7:121036006-121036649	PFSK-1	brain:	n/a	n/a
34	POLR2A	chr7:121036188-121036846	SK-N-MC	brain:	n/a	n/a
35	CHD2	chr7:121036223-121036758	H1-hESC	embryonic stem cell:	n/a	chr7:121036306-121036316
36	CTCF	chr7:121036391-121036549	HepG2	liver:	n/a	chr7:121036449-121036462 chr7:121036448-121036464 chr7:121036425-121036438 chr7:121036449-121036462 chr7:121036447-121036465 chr7:121036453-121036462 chr7:121036450-121036460
37	POLR2A	chr7:121035746-121036896	K562	blood:	n/a	n/a
38	POLR2A	chr7:121035610-121036972	K562	blood:	n/a	n/a
39	MAX	chr7:121036277-121036859	A549	lung:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
40	CTCF	chr7:121036400-121036550	HEK293	kidney:	n/a	chr7:121036449-121036462 chr7:121036448-121036464 chr7:121036425-121036438 chr7:121036449-121036462 chr7:121036447-121036465 chr7:121036453-121036462 chr7:121036450-121036460
41	MYC	chr7:121036315-121036716	MCF-7	breast:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
42	TAF1	chr7:121035795-121036751	HepG2	liver:	n/a	n/a
43	POLR2A	chr7:121036092-121036739	HepG2	liver:	n/a	n/a
44	NFIC	chr7:121036131-121036805	GM12878	blood:	n/a	n/a
45	MXI1	chr7:121035533-121036953	GM12878	blood:	n/a	n/a
46	BATF	chr7:121036013-121036660	GM12878	blood:	n/a	n/a
47	MYC	chr7:121035865-121036765	MCF-7	breast:	n/a	chr7:121036574-121036583 chr7:121036574-121036583 chr7:121036543-121036553 chr7:121036569-121036588 chr7:121036574-121036583
48	RUNX3	chr7:121035417-121036927	GM12878	blood:	n/a	n/a
49	TAF1	chr7:121036060-121036577	GM12892	blood:	n/a	n/a
50	TAL1	chr7:121036161-121036950	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:121036528-121036578	SKMC	muscle:	n/a
2	chr7:121036528-121036578	U87	brain:	n/a
3	chr7:121036528-121036578	SAEC	small airway:	n/a
4	chr7:121036534-121036584	AG10803	skin:	n/a
5	chr7:121036541-121036591	RPTEC	kidney:	n/a
6	chr7:121036528-121036578	BJ	skin:	n/a
7	chr7:121036541-121036591	HepG2	liver:	n/a
8	chr7:121036528-121036578	HCM	heart:	n/a
9	chr7:121036541-121036591	HEK293	kidney:	embryo
10	chr7:121036541-121036591	ovcar-3	ovarian:	n/a
11	chr7:121036541-121036591	HCT-116	colon:	n/a
12	chr7:121036534-121036584	HRCEpiC	kidney:	n/a
13	chr7:121036528-121036578	HCPEpiC	choroid plexus:	n/a
14	chr7:121036541-121036591	PrEC	prostate:	n/a
15	chr7:121036541-121036591	Hepatocyte	liver:	n/a
16	chr7:121036541-121036591	IMR90	lung:	fetal
17	chr7:121036534-121036584	BE2_C	brain:	n/a
18	chr7:121036534-121036584	BJ	skin:	n/a
19	chr7:121036528-121036578	HUVEC	blood vessel:	n/a
20	chr7:121036541-121036591	ECC-1	luminal epithelium:	n/a
21	chr7:121036541-121036591	NT2-D1	testis:	n/a
22	chr7:121036528-121036578	HEEpiC	esophagus:	n/a
23	chr7:121036528-121036578	NB4	blood:	n/a
24	chr7:121036541-121036591	HRPEpiC	eye:	n/a
25	chr7:121036528-121036578	ovcar-3	ovarian:	n/a
26	chr7:121036528-121036578	MCF10A-Er-Src	breast:	n/a
27	chr7:121036541-121036591	CMK	blood:	n/a
28	chr7:121036534-121036584	NB4	blood:	n/a
29	chr7:121036534-121036584	HPAEpiC	pulmonary alveolar:	n/a
30	chr7:121036534-121036584	Caco-2	colon:	n/a
31	chr7:121036528-121036578	SK-N-MC	brain:	n/a
32	chr7:121036541-121036591	AG04449	skin:	fetal
33	chr7:121036534-121036584	NHDF-neo	bronchial:	n/a
34	chr7:121036534-121036584	HRE	kidney:	n/a
35	chr7:121036541-121036591	K562	blood:	n/a
36	chr7:121036534-121036584	GM12891	blood:	n/a
37	chr7:121036528-121036578	SK-N-SH	brain:	n/a
38	chr7:121036534-121036584	HL-60	blood:	n/a
39	chr7:121036528-121036578	IMR90	lung:	fetal
40	chr7:121036541-121036591	BE2_C	brain:	n/a
41	chr7:121036528-121036578	HRPEpiC	eye:	n/a
42	chr7:121036534-121036584	Hepatocyte	liver:	n/a
43	chr7:121036534-121036584	ProgFib	skin:	n/a
44	chr7:121036534-121036584	H1-hESC	embryonic stem cell:	embryo
45	chr7:121036541-121036591	SKMC	muscle:	n/a
46	chr7:121036528-121036578	AG04450	lung:	fetal
47	chr7:121036541-121036591	BJ	skin:	n/a
48	chr7:121036528-121036578	AoSMC	blood vessel:	n/a
49	chr7:121036534-121036584	NHBE	bronchial:	n/a
50	chr7:121036534-121036584	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:121035002..121037392-chr7:121079786..121082049,2	K562	blood:
2	chr17:7386627..7387763-chr7:121036118..121037308,3	Hela-S3	cervix:
3	chr7:121034329..121037845-chrX:23092301..23095324,3	K562	blood:
4	chr7:120968488..120969247-chr7:121036355..121037173,3	MCF-7	breast:
5	chr7:121035847..121037105-chrX:23093289..23094315,5	MCF-7	breast:
6	chr7:121034886..121037643-chr7:121057416..121062764,7	MCF-7	breast:
7	chr4:74124231..74124959-chr7:121036035..121036652,2	HCT-116	colon:
8	chr1:38324931..38325766-chr7:121036187..121036743,2	HCT-116	colon:
9	chr7:121004060..121005597-chr7:121034745..121036816,2	K562	blood:
10	chr7:120380508..120383141-chr7:121034892..121036653,2	K562	blood:
11	chr7:121035574..121037845-chrX:23093806..23095324,2	K562	blood:
12	chr15:65588119..65588827-chr7:121035895..121036728,2	Hela-S3	cervix:

Variant related genes	Relation type
FAM3C	TF binding region
CYCSP19	TF binding region
FAM3C	CpG island
CYCSP19	CpG island
ENSG00000188786	Chromatin interaction
ENSG00000181222	Chromatin interaction
ENSG00000250220	Chromatin interaction
ENSG00000184408	Chromatin interaction
ENSG00000196937	Chromatin interaction
ENSG00000002745	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000174282	Chromatin interaction
ENSG00000227371	Chromatin interaction
ENSG00000174028	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000234985	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10236043	0.90[AFR][1000 genomes]
rs10248073	0.90[AFR][1000 genomes]
rs13438125	0.90[AFR][1000 genomes]
rs1819052	0.88[AFR][1000 genomes]
rs2141361	0.85[AFR][1000 genomes]
rs2697181	0.85[AFR][1000 genomes]
rs2697182	0.85[AFR][1000 genomes]
rs2697183	0.85[AFR][1000 genomes]
rs2697184	0.85[AFR][1000 genomes]
rs2697185	0.84[AFR][1000 genomes]
rs2697186	0.84[AFR][1000 genomes]
rs2697187	0.90[AFR][1000 genomes]
rs2707524	0.85[AFR][1000 genomes]
rs28620394	0.90[AFR][1000 genomes]
rs2952582	0.90[AFR][1000 genomes]
rs4262270	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	25 gene(s)	inside rSNPs	diseases
2	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
3	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription 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	20 gene(s)	inside rSNPs	diseases
5	esv2755350	chr7:120848049-121119049	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121033600-121036600	Active TSS	Fetal Intestine Small	intestine
2	chr7:121033600-121036600	Active TSS	GM12878-XiMat	blood
3	chr7:121034200-121036600	Active TSS	Fetal Intestine Large	intestine
4	chr7:121034600-121036600	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr7:121034600-121036600	Active TSS	Duodenum Mucosa	Duodenum
6	chr7:121034600-121037000	Active TSS	Brain Angular Gyrus	brain
7	chr7:121034600-121037000	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr7:121034600-121037000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:121034800-121036600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr7:121034800-121036600	Active TSS	Adipose Nuclei	Adipose
11	chr7:121034800-121036800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:121034800-121036800	Active TSS	Brain Hippocampus Middle	brain
13	chr7:121034800-121037000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:121034800-121037000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:121035000-121036600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr7:121035000-121036600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr7:121035000-121036800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:121035000-121036800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:121035000-121036800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:121035000-121036800	Active TSS	A549	lung
21	chr7:121035000-121037000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:121035000-121037000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:121035000-121037000	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr7:121035000-121037000	Active TSS	Psoas Muscle	Psoas
25	chr7:121035000-121037000	Active TSS	NHLF	lung
26	chr7:121035200-121036600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr7:121035200-121036600	Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:121035200-121036600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:121035200-121036600	Active TSS	Primary B cells from peripheral blood	blood
30	chr7:121035200-121036600	Active TSS	Muscle Satellite Cultured Cells	--
31	chr7:121035200-121036600	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr7:121035200-121036600	Active TSS	HMEC	breast
33	chr7:121035200-121036600	Active TSS	HSMM	muscle
34	chr7:121035200-121036600	Active TSS	K562	blood
35	chr7:121035200-121036600	Active TSS	NH-A	brain
36	chr7:121035200-121036600	Active TSS	NHEK	skin
37	chr7:121035200-121036800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:121035200-121036800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:121035200-121036800	Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr7:121035200-121036800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr7:121035200-121036800	Active TSS	Stomach Smooth Muscle	stomach
42	chr7:121035200-121036800	Active TSS	Hela-S3	cervix
43	chr7:121035200-121037000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:121035200-121037000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:121035200-121037000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:121035200-121037000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:121035200-121037000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:121035200-121037000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:121035200-121037000	Active TSS	Brain Cingulate Gyrus	brain
50	chr7:121035200-121037000	Active TSS	Fetal Kidney	kidney

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