Variant report

Variant	rs6716666
Chromosome Location	chr2:149870664-149870665
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	chr2:149870149..149873070-chr2:149881503..149884401,2	MCF-7	breast:
2	chr2:149865771..149867495-chr2:149868885..149871412,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28703820	1.00[AMR][1000 genomes]
rs57056083	1.00[AMR][1000 genomes]
rs57884131	1.00[AMR][1000 genomes]
rs57937037	1.00[AMR][1000 genomes]
rs58527922	1.00[AMR][1000 genomes]
rs58648788	1.00[AMR][1000 genomes]
rs7588725	1.00[AMR][1000 genomes]
rs7600923	1.00[AMR][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	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834407	chr2:149802974-149955205	Enhancers Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv834408	chr2:149868722-150058906	Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149847600-149873800	Weak transcription	Primary T helper cells PMA-I stimulated	--
2	chr2:149851200-149873600	Weak transcription	Right Atrium	heart
3	chr2:149857000-149873600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:149857200-149884000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:149858000-149873000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:149859200-149894800	Weak transcription	Gastric	stomach
7	chr2:149859800-149881200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:149859800-149881200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:149860600-149873800	Weak transcription	Fetal Brain Male	brain
10	chr2:149861000-149871400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr2:149861200-149873600	Strong transcription	Fetal Brain Female	brain
12	chr2:149862000-149871400	Strong transcription	Brain Germinal Matrix	brain
13	chr2:149863200-149873400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:149863400-149872200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:149864400-149871400	Strong transcription	Brain Inferior Temporal Lobe	brain
16	chr2:149864400-149872600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:149864400-149872800	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:149866200-149873000	Strong transcription	Brain Anterior Caudate	brain
19	chr2:149866400-149871000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:149866400-149875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:149866800-149872600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:149866800-149873200	Weak transcription	Pancreas	Pancrea
23	chr2:149866800-149878400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:149867200-149875600	Weak transcription	Fetal Intestine Small	intestine
25	chr2:149867400-149877200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr2:149869000-149886200	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:149869200-149873800	Weak transcription	Aorta	Aorta
28	chr2:149869400-149871000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:149869400-149872400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:149870000-149873600	Weak transcription	Fetal Stomach	stomach
31	chr2:149870000-149873600	Weak transcription	GM12878-XiMat	blood
32	chr2:149870200-149872200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:149870200-149872400	Weak transcription	Fetal Heart	heart
34	chr2:149870200-149873400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:149870200-149873600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:149870200-149878200	Weak transcription	Brain Substantia Nigra	brain
37	chr2:149870200-149883800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:149870400-149871800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:149870400-149872200	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:149870400-149873400	Weak transcription	Brain Angular Gyrus	brain
41	chr2:149870400-149883600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr2:149870400-149884000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:149870600-149871800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:149870600-149872200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr2:149870600-149873400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:149870600-149873800	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:149870600-149883800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:149870600-149888600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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