Variant report

Variant	rs6999412
Chromosome Location	chr8:119106012-119106013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:119105713..119109279-chr8:119110657..119113887,4	K562	blood:
2	chr8:119105713..119109059-chr8:119110657..119113887,3	K562	blood:
3	chr8:119099935..119103110-chr8:119103633..119107379,3	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17430755	1.00[YRI][hapmap]
rs17430819	1.00[YRI][hapmap]
rs2445923	1.00[YRI][hapmap]

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	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119092600-119110200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:119094200-119117000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:119094400-119110200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:119097600-119113400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:119098800-119117800	Weak transcription	Brain Germinal Matrix	brain
6	chr8:119099400-119109800	Weak transcription	Brain Anterior Caudate	brain
7	chr8:119100200-119108400	Genic enhancers	Osteobl	bone
8	chr8:119100400-119110000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr8:119100600-119106200	Weak transcription	Aorta	Aorta
10	chr8:119100600-119109800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:119101200-119110000	Weak transcription	Fetal Brain Female	brain
12	chr8:119102000-119119600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr8:119102200-119111800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr8:119102400-119106800	Weak transcription	Fetal Kidney	kidney
15	chr8:119102400-119109800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:119102400-119109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr8:119102400-119110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr8:119102400-119111200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:119102400-119112000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:119102400-119113000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:119102400-119118200	Weak transcription	Fetal Brain Male	brain
22	chr8:119102600-119107000	Weak transcription	Ovary	ovary
23	chr8:119102600-119107000	Weak transcription	A549	lung
24	chr8:119102600-119109000	Weak transcription	Fetal Intestine Large	intestine
25	chr8:119102600-119109800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:119102600-119109800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:119102600-119109800	Weak transcription	Pancreas	Pancrea
28	chr8:119102600-119109800	Weak transcription	Hela-S3	cervix
29	chr8:119102600-119110200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr8:119102600-119110200	Weak transcription	Colonic Mucosa	Colon
31	chr8:119102600-119112000	Weak transcription	Primary B cells from cord blood	blood
32	chr8:119102600-119117000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:119102600-119120000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr8:119102800-119106200	Weak transcription	Adipose Nuclei	Adipose
35	chr8:119102800-119109200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:119102800-119109800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:119102800-119109800	Weak transcription	Esophagus	oesophagus
38	chr8:119102800-119109800	Weak transcription	Right Ventricle	heart
39	chr8:119102800-119110200	Weak transcription	Gastric	stomach
40	chr8:119102800-119111400	Weak transcription	Placenta	Placenta
41	chr8:119102800-119111600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:119102800-119117200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:119103000-119106200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:119103000-119111400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr8:119103200-119109800	Weak transcription	Fetal Thymus	thymus
46	chr8:119103200-119111400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr8:119103200-119111800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr8:119103400-119106200	Weak transcription	HUVEC	blood vessel
49	chr8:119103400-119107000	Weak transcription	Left Ventricle	heart
50	chr8:119103400-119109400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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