Variant report

Variant	rs707999
Chromosome Location	chr6:36925198-36925199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36852067..36855564-chr6:36924677..36929209,4	K562	blood:
2	chr6:36924148..36928087-chr6:36953132..36955395,4	MCF-7	breast:
3	chr6:36921663..36923883-chr6:36924908..36926432,2	MCF-7	breast:
4	chr6:36923139..36925609-chr6:36953254..36955611,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164530	Chromatin interaction
ENSG00000198663	Chromatin interaction
ENSG00000137409	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12525985	0.84[ASN][1000 genomes]
rs12664695	0.92[EUR][1000 genomes]
rs13214150	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1571397	0.86[ASN][1000 genomes]
rs16889316	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34165286	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35349900	0.89[EUR][1000 genomes]
rs4711476	0.85[ASN][1000 genomes]
rs4714025	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56302603	0.84[ASN][1000 genomes]
rs56322497	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66570061	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68028411	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs697747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs697748	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs707998	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470444	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv522653	chr6:36915906-36925774	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv885815	chr6:36915906-36979583	Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36917600-36931200	Weak transcription	Brain Hippocampus Middle	brain
2	chr6:36918200-36927800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:36918200-36928400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:36921800-36926200	Enhancers	Stomach Mucosa	stomach
5	chr6:36921800-36931200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:36922000-36931000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr6:36922200-36929200	Weak transcription	Spleen	Spleen
8	chr6:36923200-36927000	Weak transcription	Left Ventricle	heart
9	chr6:36923400-36930600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:36923400-36930600	Weak transcription	GM12878-XiMat	blood
11	chr6:36923400-36931000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:36923400-36931000	Weak transcription	Brain Substantia Nigra	brain
13	chr6:36923800-36925600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr6:36923800-36925600	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr6:36923800-36927800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:36923800-36928400	Weak transcription	HSMM	muscle
17	chr6:36924000-36925600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:36924000-36926000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr6:36924000-36926200	Enhancers	Pancreas	Pancrea
20	chr6:36924000-36927800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:36924000-36929000	Weak transcription	Esophagus	oesophagus
22	chr6:36924200-36925400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr6:36924200-36926400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:36924200-36926800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:36924200-36926800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr6:36924200-36928400	Weak transcription	Placenta	Placenta
27	chr6:36924200-36928800	Weak transcription	Brain Anterior Caudate	brain
28	chr6:36924400-36926200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
29	chr6:36924400-36926600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:36924400-36927600	Weak transcription	Hela-S3	cervix
31	chr6:36924400-36927800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:36924400-36927800	Weak transcription	Fetal Heart	heart
33	chr6:36924400-36928400	Weak transcription	Thymus	Thymus
34	chr6:36924400-36929000	Weak transcription	Right Ventricle	heart
35	chr6:36924400-36929200	Weak transcription	Right Atrium	heart
36	chr6:36924600-36926800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:36924600-36928600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:36924600-36930000	Weak transcription	Primary B cells from cord blood	blood
39	chr6:36924800-36930600	Weak transcription	Primary T cells from cord blood	blood
40	chr6:36925000-36926000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr6:36925000-36927200	Weak transcription	Fetal Thymus	thymus
42	chr6:36925000-36928000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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