Variant report

Variant	rs561889775
Chromosome Location	chr7:6854859-6854860
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	chr7:6854788-6855080	GM12878	blood:	n/a	n/a
2	POLR2A	chr7:6854778-6855618	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:6854714-6855681	GM12892	blood:	n/a	n/a
4	POLR2A	chr7:6854796-6855156	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:6854749-6855100	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:6854812-6854938	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:6854735-6855229	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:6854781-6856056	GM12878	blood:	n/a	n/a
9	MYC	chr7:6854857-6854901	MCF-7	breast:	n/a	n/a
10	MYC	chr7:6854803-6854908	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:6854817-6855251	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:6854788-6854932	MCF-7	breast:	n/a	n/a
13	POLR2A	chr7:6854794-6854985	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
CCZ1B	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887441	chr7:6744957-6919214	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv887444	chr7:6753286-6855510	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv887446	chr7:6758018-6870635	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv887448	chr7:6764583-6855510	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv887449	chr7:6764583-6870635	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2757207	chr7:6764583-6977214	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2759504	chr7:6764583-6977214	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv887450	chr7:6779270-6919214	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv887451	chr7:6779270-6985071	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv887452	chr7:6791749-6919214	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv887453	chr7:6803267-6919214	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv887454	chr7:6805437-6919214	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv887455	chr7:6820508-6960802	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv887456	chr7:6820508-6985071	Weak transcription Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv887457	chr7:6820508-7163442	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
17	nsv887458	chr7:6832265-6948647	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
18	nsv887459	chr7:6832265-6950761	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
19	nsv887460	chr7:6832265-6952350	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv887461	chr7:6832265-7163442	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
21	esv2762647	chr7:6833877-6885538	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
22	nsv981430	chr7:6849071-6893097	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	esv3382921	chr7:6851627-6856525	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	inside rSNPs	diseases
24	nsv1019159	chr7:6854098-6920268	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
25	nsv1033423	chr7:6854098-6932778	Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
26	nsv1017971	chr7:6854098-6968616	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
27	nsv1023478	chr7:6854098-7001595	Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
28	nsv1022295	chr7:6854098-7171376	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
29	nsv1021638	chr7:6854098-7188086	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
30	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
31	nsv441808	chr7:6854110-6864083	Strong transcription Enhancers Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6831400-6856600	Weak transcription	Thymus	Thymus
2	chr7:6832000-6855000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:6832000-6856000	Weak transcription	Fetal Brain Female	brain
4	chr7:6832000-6856400	Weak transcription	Fetal Intestine Large	intestine
5	chr7:6832000-6864600	Weak transcription	Primary T cells from cord blood	blood
6	chr7:6832000-6864800	Weak transcription	Fetal Thymus	thymus
7	chr7:6832200-6860800	Weak transcription	Brain Anterior Caudate	brain
8	chr7:6832400-6856600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:6832400-6864600	Weak transcription	Fetal Lung	lung
10	chr7:6832600-6858000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr7:6832600-6861000	Weak transcription	HUVEC	blood vessel
12	chr7:6832600-6864600	Weak transcription	NHLF	lung
13	chr7:6833000-6865200	Weak transcription	Left Ventricle	heart
14	chr7:6833000-6865200	Weak transcription	Ovary	ovary
15	chr7:6833200-6865200	Weak transcription	Pancreas	Pancrea
16	chr7:6833600-6864600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:6833600-6865200	Weak transcription	Duodenum Mucosa	Duodenum
18	chr7:6834000-6866000	Weak transcription	Gastric	stomach
19	chr7:6840000-6865200	Weak transcription	Colonic Mucosa	Colon
20	chr7:6846600-6864600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:6847400-6864600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr7:6847600-6857200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr7:6847800-6864800	Weak transcription	NH-A	brain
24	chr7:6848200-6860600	Weak transcription	Aorta	Aorta
25	chr7:6848200-6864600	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:6848400-6864800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:6848800-6863400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:6849000-6855200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:6849000-6856600	Weak transcription	Brain Hippocampus Middle	brain
30	chr7:6849000-6858200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr7:6849000-6863200	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr7:6849000-6863200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:6849000-6864600	Weak transcription	Brain Angular Gyrus	brain
34	chr7:6849200-6856600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:6849400-6856600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr7:6849400-6858600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr7:6849400-6862800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:6849400-6863000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:6849600-6863400	Strong transcription	Fetal Stomach	stomach
40	chr7:6849800-6864600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr7:6850000-6861800	Strong transcription	Adipose Nuclei	Adipose
42	chr7:6850000-6863200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr7:6850200-6855800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr7:6850400-6860400	Weak transcription	Brain Substantia Nigra	brain
45	chr7:6850400-6865200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr7:6850400-6866000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr7:6850600-6855600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:6850600-6863400	Strong transcription	Fetal Intestine Small	intestine
49	chr7:6851200-6858000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:6851400-6861000	Weak transcription	NHEK	skin

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