Variant report

Variant	rs2288550
Chromosome Location	chr7:128038555-128038556
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	CTCF	chr7:128038502-128039016	A549	lung:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883 chr7:128038951-128038959
2	CTCF	chr7:128038543-128039033	K562	blood:	n/a	chr7:128038951-128038959 chr7:128038789-128038796 chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038875-128038883
3	CTCF	chr7:128038422-128039179	HCT-116	colon:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883 chr7:128038951-128038959
4	RAD21	chr7:128038535-128039105	A549	lung:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
5	POLR2A	chr7:128038087-128039121	SK-N-MC	brain:	n/a	n/a
6	SMC3	chr7:128038066-128039334	SK-N-SH	brain:	n/a	chr7:128038787-128038801 chr7:128038324-128038338 chr7:128038804-128038814
7	ZNF263	chr7:128038354-128038958	HEK293-T-REx	kidney:	n/a	n/a
8	CTCF	chr7:128038540-128039074	K562	blood:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883 chr7:128038951-128038959
9	CTCF	chr7:128038521-128039152	HCT-116	colon:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883 chr7:128038951-128038959
10	CTCF	chr7:128038456-128038569	ProgFib	skin:	n/a	n/a
11	RAD21	chr7:128038390-128039174	SK-N-SH	brain:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
12	CTCF	chr7:128038420-128038570	BJ	skin:	n/a	n/a
13	CTCF	chr7:128038092-128039304	SK-N-SH	brain:	n/a	chr7:128038785-128038803 chr7:128038322-128038340 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883 chr7:128038951-128038959
14	HCFC1	chr7:128038370-128039073	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr7:128038437-128038932	GM10266	blood:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883
16	POLR2A	chr7:128038438-128039016	K562	blood:	n/a	n/a
17	JUN	chr7:128038537-128039183	K562	blood:	n/a	n/a
18	RAD21	chr7:128038547-128039069	A549	lung:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
19	CTCF	chr7:128038432-128038577	GM19238	blood:	n/a	n/a
20	RAD21	chr7:128038454-128039162	HCT-116	colon:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
21	RAD21	chr7:128038530-128039063	HepG2	liver:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
22	CTCF	chr7:128038428-128038567	GM12891	blood:	n/a	n/a
23	RAD21	chr7:128038509-128039060	MCF-7	breast:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
24	POLR2A	chr7:128038132-128039091	K562	blood:	n/a	n/a
25	POLR2A	chr7:128033718-128039206	K562	blood:	n/a	n/a
26	CTCF	chr7:128038439-128038563	Gliobla	brain:	n/a	n/a
27	CTCF	chr7:128038475-128038940	GM13977	blood:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883
28	RAD21	chr7:128038504-128039219	HCT-116	colon:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
29	RAD21	chr7:128038490-128039097	H1-hESC	embryonic stem cell:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
30	CTCF	chr7:128038546-128038950	HepG2	liver:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883
31	RAD21	chr7:128038536-128039006	ECC-1	luminal epithelium:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
32	CTCF	chr7:128038450-128038608	GM12878	blood:	n/a	n/a
33	RAD21	chr7:128038516-128039014	SK-N-SH_RA	brain:	n/a	chr7:128038786-128038805 chr7:128038787-128038796 chr7:128038804-128038814
34	CTCF	chr7:128038457-128039263	A549	lung:	n/a	chr7:128038785-128038803 chr7:128038787-128038808 chr7:128038789-128038796 chr7:128038875-128038883 chr7:128038951-128038959
35	POLR2A	chr7:128036785-128039053	K562	blood:	n/a	n/a
36	POLR2A	chr7:128038143-128039177	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128038276..128039228-chr7:128065303..128066760,7	MCF-7	breast:
2	chr7:127982050..127985267-chr7:128038524..128041227,4	K562	blood:
3	chr7:128038292..128039254-chr7:128066985..128067767,3	MCF-7	breast:
4	chr7:127982483..127985267-chr7:128038524..128041227,3	K562	blood:
5	chr7:128038192..128041556-chr7:128094283..128098008,3	MCF-7	breast:
6	chr7:128038309..128039271-chr7:128065515..128066612,14	MCF-7	breast:
7	chr7:128036587..128038762-chr7:128050918..128052447,2	MCF-7	breast:
8	chr7:128036870..128039033-chr7:128045766..128047569,2	MCF-7	breast:
9	chr7:128038366..128039235-chr7:128099168..128099837,2	K562	blood:
10	chr7:128038254..128039329-chr7:128065492..128067551,10	K562	blood:
11	chr7:128033560..128036202-chr7:128037168..128039895,3	MCF-7	breast:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000238750	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1048531	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs10954185	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11763326	0.92[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764599	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11766548	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11766743	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11769087	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11769168	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11769333	0.90[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11771063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11771514	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12532613	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12540060	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12540762	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12540808	1.00[CEU][hapmap]
rs1864232	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2288554	0.87[AMR][1000 genomes]
rs35501542	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3793164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55706726	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57124454	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57715170	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58727049	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481100	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481115	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481116	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62481123	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62481124	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs66511422	0.90[AFR][1000 genomes];0.87[ASN][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	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	nsv981576	chr7:128036949-128041507	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
3	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
4	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
5	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:128030000-128043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr7:128030200-128040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:128031000-128043800	Strong transcription	Fetal Stomach	stomach
9	chr7:128031200-128039000	Strong transcription	Thymus	Thymus
10	chr7:128031200-128043200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:128031200-128043200	Strong transcription	A549	lung
12	chr7:128031200-128043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:128031200-128043600	Strong transcription	Lung	lung
14	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
15	chr7:128031400-128041800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:128031400-128043200	Strong transcription	Gastric	stomach
18	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
21	chr7:128031600-128038600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:128031600-128040800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:128031600-128041400	Strong transcription	Stomach Smooth Muscle	stomach
24	chr7:128031600-128041600	Strong transcription	Brain Germinal Matrix	brain
25	chr7:128031600-128041800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:128031600-128042000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:128031600-128042000	Strong transcription	Right Ventricle	heart
28	chr7:128031600-128042200	Strong transcription	Fetal Brain Female	brain
29	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:128031600-128043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:128031600-128043800	Strong transcription	Adipose Nuclei	Adipose
34	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
35	chr7:128031800-128041600	Strong transcription	Ovary	ovary
36	chr7:128031800-128041800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr7:128031800-128041800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:128031800-128041800	Strong transcription	Placenta	Placenta
39	chr7:128031800-128042400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:128031800-128043000	Strong transcription	NHLF	lung
41	chr7:128031800-128043400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:128031800-128043400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:128031800-128043600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr7:128031800-128043600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr7:128031800-128043800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:128032000-128044000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:128032200-128043400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:128032400-128042000	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:128032400-128043200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:128032400-128043600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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