Variant report

Variant	rs743691
Chromosome Location	chr4:2788476-2788477
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:2756433..2758010-chr4:2787446..2789644,2	K562	blood:
2	chr4:2787941..2790571-chr4:2793842..2796598,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000087266	Chromatin interaction
ENSG00000168884	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1263449	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1271256	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13113803	0.81[CHB][hapmap]
rs1626813	0.83[CHB][hapmap]
rs172998	0.89[CEU][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1751848	0.82[CHB][hapmap]
rs1784148	0.91[CHB][hapmap]
rs1784149	0.91[CHB][hapmap]
rs182820	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs190160	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282771	0.88[CHB][hapmap]
rs231334	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs231402	0.83[CHB][hapmap]
rs3213501	0.83[CHB][hapmap]
rs382379	0.83[CHB][hapmap]
rs385715	0.87[CHB][hapmap]
rs390288	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs397292	0.87[CHB][hapmap]
rs408102	0.89[ASN][1000 genomes]
rs422734	0.87[CHB][hapmap]
rs426904	0.86[CHB][hapmap]
rs433030	0.87[CHB][hapmap]
rs450080	0.87[CHB][hapmap]
rs762833	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs762834	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
11	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	63 gene(s)	inside rSNPs	diseases
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv967941	chr4:2765555-2802771	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2768000-2789400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:2780400-2789400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:2783400-2789200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:2783400-2789600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr4:2784000-2789800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr4:2784000-2791600	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr4:2784400-2789200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:2786200-2790400	Weak transcription	Brain Germinal Matrix	brain
9	chr4:2786400-2790000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr4:2786600-2794800	Enhancers	Primary B cells from cord blood	blood
11	chr4:2786800-2790800	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr4:2786800-2794800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:2786800-2794800	Enhancers	Primary B cells from peripheral blood	blood
14	chr4:2787000-2788600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:2787000-2788600	Enhancers	GM12878-XiMat	blood
16	chr4:2787000-2788800	Enhancers	HepG2	liver
17	chr4:2787000-2789000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:2787000-2789200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:2787000-2789200	Enhancers	Thymus	Thymus
20	chr4:2787000-2789400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr4:2787000-2789400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr4:2787000-2790600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:2787000-2790800	Enhancers	Primary T cells from cord blood	blood
24	chr4:2787000-2790800	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:2787000-2790800	Enhancers	Fetal Thymus	thymus
26	chr4:2787000-2791400	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr4:2787200-2788600	Weak transcription	Stomach Mucosa	stomach
28	chr4:2787200-2790800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:2787200-2791000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:2787200-2791600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:2787200-2792000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr4:2787400-2788600	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr4:2787400-2789200	Weak transcription	K562	blood
34	chr4:2787400-2789400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:2787400-2790800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:2787400-2790800	Enhancers	Duodenum Mucosa	Duodenum
37	chr4:2787400-2791600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr4:2787400-2794800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:2787600-2788800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:2787800-2788600	Enhancers	Colonic Mucosa	Colon
41	chr4:2787800-2788600	Enhancers	Fetal Intestine Large	intestine
42	chr4:2787800-2788800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr4:2787800-2789400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr4:2787800-2789800	Enhancers	Pancreas	Pancrea
45	chr4:2787800-2790400	Enhancers	Adipose Nuclei	Adipose
46	chr4:2787800-2790600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:2787800-2790800	Enhancers	Placenta	Placenta
48	chr4:2787800-2790800	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:2787800-2794400	Enhancers	Spleen	Spleen
50	chr4:2787800-2794800	Enhancers	Fetal Muscle Leg	muscle

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