Variant report

Variant	rs76672854
Chromosome Location	chr7:128044463-128044464
allele	A/G
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	NR3C1	chr7:128044078-128044741	A549	lung:	n/a	chr7:128044361-128044368 chr7:128044611-128044625 chr7:128044415-128044433 chr7:128044287-128044296 chr7:128044610-128044626 chr7:128044607-128044628 chr7:128044326-128044339 chr7:128044416-128044431 chr7:128044609-128044627
2	NR3C1	chr7:128043947-128044886	A549	lung:	n/a	chr7:128044361-128044368 chr7:128044611-128044625 chr7:128044415-128044433 chr7:128044287-128044296 chr7:128044610-128044626 chr7:128044607-128044628 chr7:128044326-128044339 chr7:128044416-128044431 chr7:128044609-128044627
3	HEY1	chr7:128043584-128044884	K562	blood:	n/a	n/a
4	KAP1	chr7:128044367-128044874	U2OS	brain:	n/a	n/a
5	POLR2A	chr7:128044380-128044486	K562	blood:	n/a	n/a
6	POLR2A	chr7:128043796-128044779	K562	blood:	n/a	n/a
7	POLR2A	chr7:128044287-128046496	SK-N-MC	brain:	n/a	n/a
8	BACH1	chr7:128044093-128044492	H1-hESC	embryonic stem cell:	n/a	n/a
9	NR3C1	chr7:128044405-128044759	A549	lung:	n/a	chr7:128044611-128044625 chr7:128044415-128044433 chr7:128044610-128044626 chr7:128044607-128044628 chr7:128044416-128044431 chr7:128044609-128044627
10	NR3C1	chr7:128044348-128044845	A549	lung:	n/a	chr7:128044361-128044368 chr7:128044611-128044625 chr7:128044415-128044433 chr7:128044610-128044626 chr7:128044607-128044628 chr7:128044416-128044431 chr7:128044609-128044627
11	FOXA1	chr7:128044395-128044806	A549	lung:	n/a	n/a
12	MAX	chr7:128044080-128044712	K562	blood:	n/a	chr7:128044677-128044687
13	NR2F2	chr7:128044327-128044917	MCF-7	breast:	n/a	n/a
14	FOXA2	chr7:128044409-128044641	HepG2	liver:	n/a	n/a
15	NR3C1	chr7:128044388-128044721	A549	lung:	n/a	chr7:128044611-128044625 chr7:128044415-128044433 chr7:128044610-128044626 chr7:128044607-128044628 chr7:128044416-128044431 chr7:128044609-128044627
16	NR3C1	chr7:128044026-128044868	A549	lung:	n/a	chr7:128044361-128044368 chr7:128044611-128044625 chr7:128044415-128044433 chr7:128044287-128044296 chr7:128044610-128044626 chr7:128044607-128044628 chr7:128044326-128044339 chr7:128044416-128044431 chr7:128044609-128044627
17	RCOR1	chr7:128044405-128044665	K562	blood:	n/a	n/a
18	FOXA1	chr7:128044402-128044813	A549	lung:	n/a	n/a
19	MXI1	chr7:128044401-128046803	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
2	chr7:128044227..128046158-chr7:128169736..128172586,2	K562	blood:
3	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000238750	Chromatin interaction
ENSG00000273270	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000242588	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	nsv515737	chr7:128044035-128050417	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
2	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
3	chr7:128038400-128045200	Weak transcription	Fetal Kidney	kidney
4	chr7:128040800-128044600	Weak transcription	Fetal Intestine Large	intestine
5	chr7:128041000-128044800	Weak transcription	Brain Hippocampus Middle	brain
6	chr7:128041000-128045000	Weak transcription	Liver	Liver
7	chr7:128041200-128045000	Weak transcription	Brain Angular Gyrus	brain
8	chr7:128041400-128045000	Weak transcription	Aorta	Aorta
9	chr7:128041600-128045000	Weak transcription	Ovary	ovary
10	chr7:128041800-128045000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr7:128042200-128045000	Weak transcription	Brain Substantia Nigra	brain
12	chr7:128042800-128045000	Enhancers	Fetal Lung	lung
13	chr7:128043200-128044600	Weak transcription	Primary T cells from cord blood	blood
14	chr7:128043200-128044800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:128043200-128045400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:128043400-128044600	Enhancers	Fetal Brain Male	brain
17	chr7:128043600-128044800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:128043600-128045000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:128043600-128045000	Enhancers	Primary T cells fromperipheralblood	blood
20	chr7:128043600-128045000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:128043800-128044600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
22	chr7:128043800-128044600	Enhancers	HUVEC	blood vessel
23	chr7:128043800-128044800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
24	chr7:128043800-128044800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:128043800-128044800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:128043800-128044800	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr7:128043800-128044800	Enhancers	Pancreas	Pancrea
28	chr7:128043800-128045000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr7:128043800-128045000	Enhancers	Primary B cells from cord blood	blood
30	chr7:128043800-128045000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr7:128043800-128045000	Enhancers	Colon Smooth Muscle	Colon
32	chr7:128043800-128045000	Enhancers	Fetal Muscle Trunk	muscle
33	chr7:128043800-128045400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:128043800-128045400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
35	chr7:128044000-128044600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:128044000-128044600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:128044000-128044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:128044000-128045000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr7:128044000-128045000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:128044000-128045000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr7:128044000-128045000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
42	chr7:128044000-128045400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:128044000-128045400	Flanking Active TSS	GM12878-XiMat	blood
44	chr7:128044000-128045600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
45	chr7:128044000-128045600	Flanking Active TSS	Fetal Brain Female	brain
46	chr7:128044200-128044600	Enhancers	Primary hematopoietic stem cells	blood
47	chr7:128044200-128044600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:128044200-128044600	Enhancers	Duodenum Mucosa	Duodenum
49	chr7:128044200-128044600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr7:128044200-128044600	Flanking Active TSS	Gastric	stomach

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