Variant report

Variant	rs374310214
Chromosome Location	chr7:128037099-128037100
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	POLR2A	chr7:128036344-128037148	K562	blood:	n/a	n/a
2	POLR2A	chr7:128036722-128037192	K562	blood:	n/a	n/a
3	POLR2A	chr7:128036929-128037136	GM12878	blood:	n/a	n/a
4	POLR2A	chr7:128036308-128037175	K562	blood:	n/a	n/a
5	POLR2A	chr7:128036446-128037197	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:128036646-128037119	GM12892	blood:	n/a	n/a
7	POLR2A	chr7:128033718-128039206	K562	blood:	n/a	n/a
8	POLR2A	chr7:128036785-128039053	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128036587..128038762-chr7:128050918..128052447,2	MCF-7	breast:
2	chr7:128036870..128039033-chr7:128045766..128047569,2	MCF-7	breast:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000106348	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	chr7:128028800-128037200	Weak transcription	Primary B cells from cord blood	blood
6	chr7:128029200-128037400	Weak transcription	Fetal Kidney	kidney
7	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:128029800-128037200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:128030000-128043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:128030200-128037200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:128030200-128040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:128030400-128037200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:128030400-128037400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:128030400-128038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:128031000-128043800	Strong transcription	Fetal Stomach	stomach
16	chr7:128031200-128037200	Weak transcription	Hela-S3	cervix
17	chr7:128031200-128038400	Strong transcription	Primary T cells from cord blood	blood
18	chr7:128031200-128039000	Strong transcription	Thymus	Thymus
19	chr7:128031200-128043200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:128031200-128043200	Strong transcription	A549	lung
21	chr7:128031200-128043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:128031200-128043600	Strong transcription	Lung	lung
23	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
24	chr7:128031400-128041800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:128031400-128043200	Strong transcription	Gastric	stomach
27	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:128031600-128038400	Strong transcription	Fetal Muscle Trunk	muscle
31	chr7:128031600-128038600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:128031600-128040800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:128031600-128041400	Strong transcription	Stomach Smooth Muscle	stomach
34	chr7:128031600-128041600	Strong transcription	Brain Germinal Matrix	brain
35	chr7:128031600-128041800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:128031600-128042000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:128031600-128042000	Strong transcription	Right Ventricle	heart
38	chr7:128031600-128042200	Strong transcription	Fetal Brain Female	brain
39	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:128031600-128043800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr7:128031600-128043800	Strong transcription	Adipose Nuclei	Adipose
44	chr7:128031600-128044400	Strong transcription	Fetal Intestine Small	intestine
45	chr7:128031800-128037400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr7:128031800-128038200	Weak transcription	Stomach Mucosa	stomach
47	chr7:128031800-128041600	Strong transcription	Ovary	ovary
48	chr7:128031800-128041800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr7:128031800-128041800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:128031800-128041800	Strong transcription	Placenta	Placenta

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