Variant report

Variant	rs6992443
Chromosome Location	chr8:1649938-1649939
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:1644165..1646557-chr8:1648161..1651623,3	K562	blood:
2	chr8:1648393..1649994-chr8:1655851..1658728,2	MCF-7	breast:
3	chr8:1647929..1650394-chr8:1651041..1654216,3	MCF-7	breast:
4	chr8:1649287..1651045-chr8:1651779..1654462,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11787218	1.00[CHB][hapmap]
rs12546965	1.00[CHB][hapmap]
rs2108119	1.00[CHB][hapmap]
rs3901161	1.00[CHB][hapmap]
rs41435746	1.00[CHB][hapmap]
rs7005428	1.00[CHB][hapmap]
rs7842741	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv427811	chr8:1400816-1676653	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1034963	chr8:1544425-1681781	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1015597	chr8:1563559-1684995	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv539296	chr8:1563559-1684995	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv889704	chr8:1563904-1965389	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv889705	chr8:1581839-1676147	Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv889706	chr8:1581839-1681171	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv889707	chr8:1581839-1920461	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv889708	chr8:1581839-1965389	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv889709	chr8:1581839-1965389	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
14	nsv889710	chr8:1591412-1676147	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv889711	chr8:1591412-1904157	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
16	nsv889712	chr8:1591412-2337777	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
17	nsv889713	chr8:1594307-1659040	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	nsv889714	chr8:1616718-1965389	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
19	nsv934075	chr8:1626857-1736355	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
20	nsv889715	chr8:1630469-1685064	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv889716	chr8:1632525-1685064	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1648400-1650000	Active TSS	Colon Smooth Muscle	Colon
2	chr8:1648800-1650000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:1648800-1650000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:1648800-1650200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr8:1648800-1650400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:1649000-1650000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:1649000-1650000	Flanking Active TSS	Primary B cells from peripheral blood	blood
8	chr8:1649000-1650000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
9	chr8:1649000-1650000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr8:1649000-1650000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:1649000-1650000	Active TSS	Brain Cingulate Gyrus	brain
12	chr8:1649000-1650000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr8:1649000-1650000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr8:1649000-1650000	Active TSS	Right Ventricle	heart
15	chr8:1649000-1650000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
16	chr8:1649000-1650000	Flanking Bivalent TSS/Enh	Thymus	Thymus
17	chr8:1649000-1650000	Active TSS	HSMM	muscle
18	chr8:1649000-1650000	Active TSS	Osteobl	bone
19	chr8:1649000-1650200	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:1649000-1650200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr8:1649000-1650200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr8:1649000-1650200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr8:1649000-1650400	Active TSS	H9 Cell Line	embryonic stem cell
24	chr8:1649000-1650400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr8:1649000-1650400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:1649200-1650000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr8:1649200-1650000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:1649200-1650000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
29	chr8:1649200-1650000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:1649200-1650000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:1649200-1650000	Active TSS	Primary T cells from cord blood	blood
32	chr8:1649200-1650000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:1649200-1650000	Active TSS	Brain Substantia Nigra	brain
34	chr8:1649200-1650000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
35	chr8:1649200-1650000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr8:1649200-1650000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
37	chr8:1649200-1650000	Active TSS	Pancreas	Pancrea
38	chr8:1649200-1650000	Bivalent/Poised TSS	Psoas Muscle	Psoas
39	chr8:1649200-1650000	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:1649200-1650000	Active TSS	Stomach Mucosa	stomach
41	chr8:1649200-1650000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
42	chr8:1649200-1650000	Active TSS	A549	lung
43	chr8:1649200-1650000	Flanking Active TSS	HUVEC	blood vessel
44	chr8:1649200-1650000	Active TSS	NH-A	brain
45	chr8:1649200-1650200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr8:1649200-1650200	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr8:1649200-1650200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr8:1649200-1650200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:1649200-1650200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr8:1649200-1650200	Active TSS	Rectal Mucosa Donor 31	rectum

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