Variant report

Variant	rs58674331
Chromosome Location	chr6:15344298-15344299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:15342583..15344777-chr6:15361568..15363070,2	K562	blood:
2	chr6:15342546..15345320-chr6:15399209..15400740,2	K562	blood:
3	chr6:15337898..15340460-chr6:15344008..15346254,2	K562	blood:
4	chr6:15340747..15343186-chr6:15343295..15345820,2	K562	blood:
5	chr6:15298447..15300545-chr6:15342591..15344623,2	K562	blood:
6	chr6:15245967..15248846-chr6:15342706..15344911,2	K562	blood:
7	chr6:15342018..15344777-chr6:15361568..15363151,2	K562	blood:

Variant related genes	Relation type
ENSG00000008083	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11759478	0.82[AFR][1000 genomes]
rs12211777	0.87[AFR][1000 genomes]
rs16876250	0.87[AFR][1000 genomes]
rs6459405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6903550	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6907856	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6923291	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6941561	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027010	chr6:15201803-15425629	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong 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	27 gene(s)	inside rSNPs	diseases
2	nsv538140	chr6:15217899-15547127	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1030558	chr6:15234675-15449137	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv538141	chr6:15234675-15509163	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv538142	chr6:15243960-15404893	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv949448	chr6:15279490-15449441	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1025512	chr6:15291551-15452395	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv538143	chr6:15291551-15452395	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv538144	chr6:15310696-15364984	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:15327800-15375800	Weak transcription	Aorta	Aorta
2	chr6:15330800-15348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:15331600-15345400	Weak transcription	Ovary	ovary
4	chr6:15331600-15346000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:15331600-15347000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:15332000-15355800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr6:15332000-15359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:15333200-15351400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:15333800-15347600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:15334800-15350200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr6:15335400-15349800	Enhancers	Fetal Thymus	thymus
12	chr6:15337800-15346400	Weak transcription	NHDF-Ad	bronchial
13	chr6:15338000-15351600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:15338400-15349800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:15338400-15351600	Weak transcription	Colon Smooth Muscle	Colon
16	chr6:15338800-15350600	Weak transcription	Adipose Nuclei	Adipose
17	chr6:15338800-15351600	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:15339400-15351600	Weak transcription	Right Atrium	heart
19	chr6:15339600-15347000	Weak transcription	Spleen	Spleen
20	chr6:15340000-15344600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr6:15340000-15344800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:15340000-15344800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:15340000-15346200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:15340000-15347000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr6:15340000-15347200	Enhancers	Primary B cells from peripheral blood	blood
26	chr6:15340800-15344400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr6:15341000-15362800	Weak transcription	Fetal Intestine Small	intestine
28	chr6:15341200-15346800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:15341200-15349200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:15341200-15359400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr6:15341400-15348000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr6:15341400-15365400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:15341600-15349000	Weak transcription	NHLF	lung
34	chr6:15341600-15349400	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:15341600-15350800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:15341600-15352200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr6:15341800-15344400	Enhancers	GM12878-XiMat	blood
38	chr6:15341800-15345200	Weak transcription	Dnd41	blood
39	chr6:15341800-15345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:15341800-15345400	Weak transcription	Fetal Intestine Large	intestine
41	chr6:15341800-15351600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:15341800-15352600	Weak transcription	Pancreas	Pancrea
43	chr6:15341800-15362800	Weak transcription	Gastric	stomach
44	chr6:15341800-15378400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:15342000-15344400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:15342000-15345400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:15342000-15347000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:15342000-15350200	Weak transcription	NHEK	skin
49	chr6:15342000-15351200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:15342000-15351800	Weak transcription	HSMM	muscle

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