Variant report

Variant	rs4724785
Chromosome Location	chr7:6212135-6212136
allele	C/T
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	RAD21	chr7:6211924-6212181	IMR90	lung:	n/a	chr7:6211974-6211988
2	RCOR1	chr7:6211769-6212596	IMR90	lung:	n/a	n/a
3	GATA3	chr7:6212122-6212595	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr7:6211861-6212151	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:6211819-6212281	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:6211181-6212644	GM12878	blood:	n/a	n/a
7	MAFK	chr7:6212036-6212143	IMR90	lung:	n/a	n/a
8	POLR2A	chr7:6211942-6212143	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:6211562-6212237	GM12891	blood:	n/a	n/a
10	FOSL2	chr7:6211772-6212341	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
CYTH3	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1017035	0.95[CEU][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1101167	1.00[ASN][1000 genomes]
rs11771806	1.00[ASN][1000 genomes]
rs12702495	1.00[ASN][1000 genomes]
rs12702498	1.00[ASN][1000 genomes]
rs13229191	1.00[ASN][1000 genomes]
rs35776691	1.00[ASN][1000 genomes]
rs556718	1.00[ASN][1000 genomes]
rs56242997	1.00[ASN][1000 genomes]
rs6974047	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	nsv522155	chr7:6172654-6212656	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv818475	chr7:6187783-6212656	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv522217	chr7:6189780-6212656	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
14	nsv887426	chr7:6190126-6212656	Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv887427	chr7:6190126-6213396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
2	chr7:6184000-6218600	Strong transcription	Fetal Intestine Small	intestine
3	chr7:6198800-6220000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr7:6199200-6219200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:6199400-6213800	Strong transcription	Fetal Intestine Large	intestine
6	chr7:6200400-6212600	Weak transcription	HUVEC	blood vessel
7	chr7:6201400-6219200	Weak transcription	K562	blood
8	chr7:6201800-6212200	Weak transcription	HSMM	muscle
9	chr7:6201800-6215000	Weak transcription	Hela-S3	cervix
10	chr7:6201800-6215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:6201800-6226400	Weak transcription	Liver	Liver
12	chr7:6202000-6213400	Strong transcription	Gastric	stomach
13	chr7:6202000-6215000	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:6202000-6230600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:6202200-6216800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:6202400-6215000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr7:6202400-6218000	Weak transcription	Small Intestine	intestine
18	chr7:6202400-6226600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:6202400-6238000	Weak transcription	Fetal Kidney	kidney
20	chr7:6202600-6218000	Weak transcription	Psoas Muscle	Psoas
21	chr7:6202600-6228200	Weak transcription	Dnd41	blood
22	chr7:6203800-6218000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr7:6204000-6212400	Weak transcription	Colon Smooth Muscle	Colon
24	chr7:6204200-6213000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:6204600-6217000	Weak transcription	GM12878-XiMat	blood
26	chr7:6204600-6228000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:6204800-6212600	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr7:6204800-6216400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:6204800-6216600	Weak transcription	Primary T cells from cord blood	blood
30	chr7:6205000-6215000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:6205200-6212400	Weak transcription	A549	lung
32	chr7:6205800-6212400	Weak transcription	Brain Anterior Caudate	brain
33	chr7:6206800-6212800	Strong transcription	Lung	lung
34	chr7:6207600-6212600	Weak transcription	Primary B cells from cord blood	blood
35	chr7:6207800-6229800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr7:6208200-6219600	Weak transcription	Fetal Thymus	thymus
37	chr7:6209400-6213200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:6209400-6213400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr7:6209600-6230000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:6209800-6218000	Weak transcription	Brain Angular Gyrus	brain
41	chr7:6210000-6212400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:6210000-6219400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:6210000-6230000	Weak transcription	Brain Substantia Nigra	brain
44	chr7:6210200-6219200	Weak transcription	Fetal Brain Male	brain
45	chr7:6210400-6216400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:6210600-6212200	Weak transcription	Osteobl	bone
47	chr7:6210600-6212400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:6210600-6212400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:6210600-6212600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr7:6210600-6212600	Strong transcription	Brain Germinal Matrix	brain

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