Variant report

Variant	rs188972117
Chromosome Location	chr4:2962393-2962394
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF274	chr4:2962176-2963300	K562	blood:	n/a	n/a
2	POLR2A	chr4:2961976-2962422	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2937577..2939558-chr4:2961657..2964358,2	MCF-7	breast:
2	chr4:2795940..2798085-chr4:2962031..2964351,2	MCF-7	breast:
3	chr4:2936328..2940860-chr4:2961848..2966602,8	K562	blood:
4	chr4:2948727..2950755-chr4:2959506..2963214,4	K562	blood:
5	chr4:2960088..2962960-chr4:3074155..3076323,2	MCF-7	breast:
6	chr4:2961872..2963731-chr4:3064483..3066913,2	K562	blood:

No data

Variant related genes	Relation type
GRK4	TF binding region
ENSG00000249673	Chromatin interaction
ENSG00000251075	Chromatin interaction
ENSG00000109736	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1008436	chr4:2947160-3031195	Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv536998	chr4:2947160-3031195	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv593438	chr4:2948456-3030097	Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1008527	chr4:2957814-3019042	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1014013	chr4:2959876-3009507	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv536999	chr4:2959876-3009507	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv3430800	chr4:2961729-2964002	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	esv3371193	chr4:2962104-2963452	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2939200-2963200	Weak transcription	Fetal Heart	heart
2	chr4:2948800-2963200	Strong transcription	Fetal Intestine Small	intestine
3	chr4:2953600-2963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:2954400-2962400	Strong transcription	A549	lung
5	chr4:2956000-2963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:2958200-2963200	Weak transcription	Stomach Mucosa	stomach
7	chr4:2958400-2963000	Strong transcription	K562	blood
8	chr4:2958400-2963200	Weak transcription	Brain Substantia Nigra	brain
9	chr4:2958400-2963200	Weak transcription	Fetal Brain Male	brain
10	chr4:2958400-2963200	Weak transcription	Fetal Kidney	kidney
11	chr4:2958600-2962400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr4:2958800-2963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:2958800-2963200	Weak transcription	Colon Smooth Muscle	Colon
14	chr4:2959200-2962600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:2959200-2963000	Weak transcription	Brain Germinal Matrix	brain
16	chr4:2959200-2964400	Weak transcription	Aorta	Aorta
17	chr4:2959400-2963000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:2959400-2963000	Weak transcription	Pancreas	Pancrea
19	chr4:2959400-2963000	Weak transcription	Small Intestine	intestine
20	chr4:2959400-2963200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:2959400-2963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr4:2959600-2963000	Weak transcription	Brain Anterior Caudate	brain
23	chr4:2959600-2963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:2959600-2963200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr4:2959600-2963200	Weak transcription	Colonic Mucosa	Colon
26	chr4:2959800-2963000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:2959800-2963200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr4:2959800-2963200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:2959800-2963200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr4:2959800-2963200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr4:2959800-2963400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:2960000-2963000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:2960000-2963200	Weak transcription	Brain Angular Gyrus	brain
34	chr4:2960000-2963200	Weak transcription	Esophagus	oesophagus
35	chr4:2960400-2962400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:2960400-2963200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:2960400-2963200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr4:2960400-2963200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr4:2960600-2962400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:2960600-2963000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr4:2960600-2963000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:2960600-2963000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:2960600-2963000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr4:2960600-2963000	Weak transcription	Placenta	Placenta
45	chr4:2960600-2963000	Weak transcription	HepG2	liver
46	chr4:2960600-2963000	Weak transcription	HSMMtube	muscle
47	chr4:2960600-2963200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:2960600-2963200	Weak transcription	Brain Hippocampus Middle	brain
49	chr4:2960600-2963200	Weak transcription	Fetal Lung	lung
50	chr4:2960600-2963200	Weak transcription	Lung	lung

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