Variant report

Variant	rs6713866
Chromosome Location	chr2:234336143-234336144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234313157..234314685-chr2:234334796..234337300,2	K562	blood:
2	chr2:234333282..234336244-chr2:234336565..234338970,2	K562	blood:
3	chr2:234329686..234332891-chr2:234335011..234337896,4	MCF-7	breast:
4	chr2:234330775..234332470-chr2:234335066..234337400,2	K562	blood:
5	chr2:234335325..234337251-chr2:234341228..234343358,2	K562	blood:

Variant related genes	Relation type
ENSG00000077044	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10177761	0.80[EUR][1000 genomes]
rs10181039	0.90[EUR][1000 genomes]
rs10193542	0.90[EUR][1000 genomes]
rs10207915	0.81[ASN][1000 genomes]
rs1097930	0.81[ASN][1000 genomes]
rs1097931	0.84[ASN][1000 genomes]
rs11888993	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11892545	0.90[EUR][1000 genomes]
rs11897617	0.95[ASN][1000 genomes]
rs13391864	0.85[EUR][1000 genomes]
rs13392183	0.87[EUR][1000 genomes]
rs13400471	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13400563	0.90[EUR][1000 genomes]
rs13403169	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13406462	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs13406655	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13414407	0.90[EUR][1000 genomes]
rs13419277	0.90[EUR][1000 genomes]
rs13425849	0.84[EUR][1000 genomes]
rs1470864	0.85[ASN][1000 genomes]
rs2167885	0.85[ASN][1000 genomes]
rs2305541	0.82[ASN][1000 genomes]
rs2602387	0.81[ASN][1000 genomes]
rs2602389	0.81[ASN][1000 genomes]
rs2603545	0.81[ASN][1000 genomes]
rs2603547	0.85[ASN][1000 genomes]
rs28444082	0.90[EUR][1000 genomes]
rs28506837	0.90[EUR][1000 genomes]
rs28588417	0.85[EUR][1000 genomes]
rs2924811	0.87[ASN][1000 genomes]
rs2971862	0.87[ASN][1000 genomes]
rs2971863	0.87[ASN][1000 genomes]
rs2971864	0.87[ASN][1000 genomes]
rs2971867	0.87[ASN][1000 genomes]
rs3762591	0.90[EUR][1000 genomes]
rs4233627	0.81[ASN][1000 genomes]
rs59458664	0.83[ASN][1000 genomes]
rs73117507	0.90[EUR][1000 genomes]
rs7572257	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7599285	0.81[ASN][1000 genomes]
rs838543	0.81[ASN][1000 genomes]
rs838544	0.81[ASN][1000 genomes]
rs838545	0.81[ASN][1000 genomes]
rs838548	0.81[ASN][1000 genomes]
rs838549	0.81[ASN][1000 genomes]
rs838550	0.81[ASN][1000 genomes]
rs838551	0.81[ASN][1000 genomes]
rs838552	0.81[ASN][1000 genomes]
rs838555	0.81[ASN][1000 genomes]
rs838559	0.85[ASN][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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS 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	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv1000870	chr2:234333083-234410768	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
3	chr2:234324400-234338400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:234328800-234337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:234328800-234343000	Weak transcription	Liver	Liver
6	chr2:234329000-234339200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr2:234329000-234343600	Weak transcription	Fetal Brain Female	brain
8	chr2:234329000-234351600	Weak transcription	Fetal Brain Male	brain
9	chr2:234329200-234343800	Weak transcription	Brain Germinal Matrix	brain
10	chr2:234329200-234344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:234329400-234343200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:234329400-234343400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:234329400-234344600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:234329400-234346000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:234330800-234336800	Weak transcription	Ovary	ovary
16	chr2:234330800-234337800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:234330800-234343200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:234331000-234338000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:234331000-234344000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:234331200-234338200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:234331200-234340400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:234331200-234343400	Weak transcription	Thymus	Thymus
23	chr2:234331200-234344000	Weak transcription	Dnd41	blood
24	chr2:234331200-234344600	Weak transcription	Esophagus	oesophagus
25	chr2:234331600-234338000	Weak transcription	Fetal Thymus	thymus
26	chr2:234331600-234338200	Weak transcription	Adipose Nuclei	Adipose
27	chr2:234331600-234344400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:234332200-234338000	Weak transcription	Pancreas	Pancrea
29	chr2:234332600-234339800	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:234333200-234343200	Weak transcription	HepG2	liver
31	chr2:234333200-234344000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr2:234333400-234343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:234333400-234343000	Weak transcription	Colonic Mucosa	Colon
34	chr2:234333400-234343000	Weak transcription	Spleen	Spleen
35	chr2:234333400-234344600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:234333400-234345600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:234333600-234336400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:234333600-234336400	Weak transcription	Fetal Stomach	stomach
39	chr2:234333600-234336800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:234333600-234336800	Enhancers	Right Ventricle	heart
41	chr2:234333600-234336800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:234333600-234338600	Weak transcription	NHLF	lung
43	chr2:234333600-234339200	Enhancers	Stomach Mucosa	stomach
44	chr2:234333600-234343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:234333600-234343200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr2:234333600-234343400	Weak transcription	Lung	lung
47	chr2:234333800-234343800	Weak transcription	Fetal Intestine Large	intestine
48	chr2:234334000-234343400	Weak transcription	Fetal Intestine Small	intestine
49	chr2:234334200-234339800	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr2:234334200-234340200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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