Variant report

Variant	rs6710669
Chromosome Location	chr2:99107346-99107347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:99098848..99102252-chr2:99105499..99109445,4	MCF-7	breast:
2	chr2:99104340..99107491-chr2:99108122..99111203,3	MCF-7	breast:
3	chr2:99106605..99108697-chr2:99112654..99115473,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11885661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11891148	1.00[EUR][1000 genomes]
rs11901761	1.00[EUR][1000 genomes]
rs13395005	1.00[EUR][1000 genomes]
rs17020532	1.00[EUR][1000 genomes]
rs17030716	1.00[EUR][1000 genomes]
rs17033137	1.00[EUR][1000 genomes]
rs17034163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17034261	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1847551	1.00[EUR][1000 genomes]
rs2271041	1.00[EUR][1000 genomes]
rs2871214	1.00[EUR][1000 genomes]
rs35028575	1.00[EUR][1000 genomes]
rs6716095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6727604	1.00[EUR][1000 genomes]
rs6730113	1.00[EUR][1000 genomes]
rs6730953	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6739018	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6749575	1.00[EUR][1000 genomes]
rs6749743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6754711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6756034	1.00[EUR][1000 genomes]
rs6756693	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7561785	1.00[EUR][1000 genomes]
rs7570509	1.00[EUR][1000 genomes]
rs7585045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7605114	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518056	chr2:98586842-99156296	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1006328	chr2:98977192-99210376	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1007244	chr2:99063753-99136472	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99072600-99119600	Weak transcription	Aorta	Aorta
2	chr2:99090800-99108000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:99096800-99113600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:99097400-99110400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:99098400-99115200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:99100000-99111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:99100200-99110400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:99100400-99121600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:99100600-99110600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:99101000-99107600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:99101000-99115200	Weak transcription	Fetal Lung	lung
12	chr2:99101600-99111200	Weak transcription	Fetal Brain Female	brain
13	chr2:99101600-99121200	Weak transcription	Gastric	stomach
14	chr2:99101600-99131400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:99101800-99108400	Weak transcription	A549	lung
16	chr2:99102000-99107600	Weak transcription	Dnd41	blood
17	chr2:99102200-99122200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:99102600-99107600	Enhancers	Brain Anterior Caudate	brain
19	chr2:99103200-99107400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:99103200-99113200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:99103400-99107600	Weak transcription	Esophagus	oesophagus
22	chr2:99103400-99110000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:99103400-99115200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:99103600-99113400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:99103600-99118400	Weak transcription	HSMMtube	muscle
26	chr2:99104000-99107800	Enhancers	Fetal Thymus	thymus
27	chr2:99104000-99108000	Enhancers	Thymus	Thymus
28	chr2:99104000-99108400	Enhancers	Left Ventricle	heart
29	chr2:99104000-99109200	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr2:99104000-99118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:99104200-99108200	Enhancers	Brain Hippocampus Middle	brain
32	chr2:99104400-99107800	Enhancers	Colon Smooth Muscle	Colon
33	chr2:99104400-99108800	Weak transcription	NHDF-Ad	bronchial
34	chr2:99104400-99110600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:99104600-99108000	Enhancers	Right Atrium	heart
36	chr2:99104600-99109000	Weak transcription	Osteobl	bone
37	chr2:99104600-99110600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:99104800-99107600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:99104800-99108400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:99105000-99108000	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:99105000-99108400	Genic enhancers	Primary T cells from cord blood	blood
42	chr2:99105000-99110600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr2:99105000-99110600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr2:99105000-99110600	Weak transcription	K562	blood
45	chr2:99105200-99107400	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:99105200-99110800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:99105200-99120400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:99105400-99110600	Weak transcription	Fetal Intestine Small	intestine
49	chr2:99105400-99110600	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:99105600-99110600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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