Variant report

Variant	rs2003806
Chromosome Location	chr4:2804962-2804963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2802998..2805170-chr4:2844898..2847427,2	MCF-7	breast:
2	chr4:2804056..2806985-chr4:2932653..2936211,3	K562	blood:
3	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
4	chr4:2802222..2807121-chr4:2932653..2939222,7	K562	blood:
5	chr4:2804665..2806753-chr4:2851605..2853395,2	MCF-7	breast:
6	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249673	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000109736	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10001883	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11722784	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11933325	0.85[EUR][1000 genomes]
rs11947904	0.85[EUR][1000 genomes]
rs11947936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103393	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2004190	0.81[EUR][1000 genomes]
rs231333	0.82[EUR][1000 genomes]
rs28522320	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28532194	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6600770	0.85[EUR][1000 genomes]
rs755137	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659744	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695195	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	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
16	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
17	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2796200-2813800	Enhancers	Left Ventricle	heart
2	chr4:2796600-2814600	Enhancers	Stomach Mucosa	stomach
3	chr4:2798400-2809600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:2801800-2809800	Enhancers	Fetal Intestine Large	intestine
5	chr4:2802200-2805200	Enhancers	Fetal Intestine Small	intestine
6	chr4:2802600-2806600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:2802800-2808400	Weak transcription	Brain Angular Gyrus	brain
8	chr4:2802800-2808800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:2802800-2810200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr4:2803000-2808600	Enhancers	Fetal Muscle Leg	muscle
11	chr4:2803000-2810600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:2803200-2805400	Enhancers	Fetal Muscle Trunk	muscle
13	chr4:2803200-2807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:2803200-2811600	Enhancers	Right Ventricle	heart
15	chr4:2803200-2813400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:2803400-2805000	Enhancers	Primary B cells from peripheral blood	blood
17	chr4:2803400-2805000	Weak transcription	Right Atrium	heart
18	chr4:2803400-2805200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:2803400-2805400	Weak transcription	NHEK	skin
20	chr4:2803400-2805600	Weak transcription	HSMM	muscle
21	chr4:2803400-2806600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr4:2803400-2806600	Weak transcription	Pancreas	Pancrea
23	chr4:2803400-2807000	Weak transcription	A549	lung
24	chr4:2803400-2807200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:2803400-2807200	Enhancers	Adipose Nuclei	Adipose
26	chr4:2803400-2807200	Enhancers	Colonic Mucosa	Colon
27	chr4:2803400-2807200	Weak transcription	Ovary	ovary
28	chr4:2803400-2807200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:2803400-2807400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:2803400-2807600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:2803400-2807600	Weak transcription	Brain Germinal Matrix	brain
32	chr4:2803400-2808200	Weak transcription	HSMMtube	muscle
33	chr4:2803400-2808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:2803400-2808400	Weak transcription	Thymus	Thymus
35	chr4:2803400-2808600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:2803400-2808600	Enhancers	Duodenum Mucosa	Duodenum
37	chr4:2803400-2808600	Weak transcription	Osteobl	bone
38	chr4:2803400-2811600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr4:2803400-2812800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:2803400-2819200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr4:2803600-2805000	Weak transcription	Hela-S3	cervix
42	chr4:2803600-2805400	Weak transcription	NHDF-Ad	bronchial
43	chr4:2803600-2805800	Weak transcription	Fetal Brain Male	brain
44	chr4:2803600-2807000	Weak transcription	Fetal Brain Female	brain
45	chr4:2803600-2807200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:2803600-2807400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr4:2803600-2808200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:2803600-2808200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:2803600-2808600	Enhancers	GM12878-XiMat	blood
50	chr4:2803600-2808600	Weak transcription	NH-A	brain

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