Variant report

Variant	rs6994163
Chromosome Location	chr8:8820969-8820970
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:8637281..8637804-chr8:8820490..8821301,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERI1-5	chr8:8820728-8821298	NONHSAT124897

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs13259143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841077	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6981573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv610205	chr8:8799111-8891644	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6994163	RP11-62H7.2	cis	Thyroid	GTEx
rs6994163	THEX1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8811000-8836000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr8:8817800-8827600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr8:8818600-8821000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:8820200-8821600	Enhancers	Stomach Mucosa	stomach
5	chr8:8820600-8821000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr8:8820600-8821000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:8820600-8821000	Active TSS	Fetal Lung	lung
8	chr8:8820600-8821000	Bivalent Enhancer	HSMMtube	muscle
9	chr8:8820600-8821000	Bivalent Enhancer	NH-A	brain
10	chr8:8820600-8821200	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr8:8820600-8821200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:8820600-8821200	Active TSS	Rectal Smooth Muscle	rectum
13	chr8:8820600-8821400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:8820600-8821400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:8820600-8821400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:8820600-8821400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
20	chr8:8820600-8821400	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr8:8820600-8821400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr8:8820600-8821400	Flanking Active TSS	Fetal Intestine Small	intestine
23	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr8:8820600-8821400	Flanking Active TSS	Ovary	ovary
25	chr8:8820600-8821400	Bivalent/Poised TSS	NHDF-Ad	bronchial
26	chr8:8820600-8821400	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr8:8820600-8821600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
28	chr8:8820600-8821600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
30	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:8820600-8821600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:8820600-8821600	Bivalent Enhancer	Fetal Brain Male	brain
33	chr8:8820600-8821600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:8820600-8821800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr8:8820800-8821000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:8820800-8821000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:8820800-8821000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:8820800-8821000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr8:8820800-8821000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:8820800-8821000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
41	chr8:8820800-8821000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
42	chr8:8820800-8821000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr8:8820800-8821000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:8820800-8821000	Flanking Active TSS	Aorta	Aorta
45	chr8:8820800-8821000	Active TSS	Brain Substantia Nigra	brain
46	chr8:8820800-8821000	Bivalent Enhancer	Esophagus	oesophagus
47	chr8:8820800-8821000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
48	chr8:8820800-8821000	Enhancers	Placenta	Placenta
49	chr8:8820800-8821000	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
50	chr8:8820800-8821000	Active TSS	Left Ventricle	heart

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