Variant report

Variant	rs6761648
Chromosome Location	chr2:54179550-54179551
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54174802..54180100-chr2:54196834..54199105,5	K562	blood:
2	chr2:54166145..54169657-chr2:54176630..54180316,3	K562	blood:
3	chr2:54176939..54180611-chr2:54194148..54196574,3	K562	blood:
4	chr2:54178658..54180382-chr2:54186719..54189310,2	K562	blood:
5	chr2:54177874..54180266-chr2:54264594..54267225,2	K562	blood:
6	chr2:54166205..54169657-chr2:54178051..54180434,3	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10180492	1.00[ASN][1000 genomes]
rs10188834	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199444	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10199995	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10208649	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1049894	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11125517	1.00[ASN][1000 genomes]
rs11886024	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886366	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11889527	0.82[EUR][1000 genomes]
rs11890472	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891000	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892759	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11894028	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387291	1.00[ASN][1000 genomes]
rs13389673	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13395751	0.87[EUR][1000 genomes]
rs13401719	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13402778	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417051	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13432387	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1404994	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17045242	1.00[ASN][1000 genomes]
rs2177791	1.00[ASN][1000 genomes]
rs2177792	1.00[ASN][1000 genomes]
rs28391754	1.00[ASN][1000 genomes]
rs28571698	0.82[EUR][1000 genomes]
rs28699646	0.84[EUR][1000 genomes]
rs3930909	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41536750	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59172147	0.81[EUR][1000 genomes]
rs60769690	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545367	1.00[ASN][1000 genomes]
rs6545369	1.00[ASN][1000 genomes]
rs6545372	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6712561	1.00[ASN][1000 genomes]
rs6715161	0.87[EUR][1000 genomes]
rs6723722	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6730494	0.87[EUR][1000 genomes]
rs6731217	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731911	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740063	1.00[ASN][1000 genomes]
rs6745729	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6751340	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756424	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759437	1.00[ASN][1000 genomes]
rs72902931	1.00[ASN][1000 genomes]
rs72904915	0.82[EUR][1000 genomes]
rs73937421	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559651	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560575	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7565152	1.00[ASN][1000 genomes]
rs7567225	1.00[ASN][1000 genomes]
rs7594327	1.00[ASN][1000 genomes]
rs7599335	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608085	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7608989	1.00[ASN][1000 genomes]
rs9309251	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9678301	0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829423	chr2:54177847-54181052	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
2	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
6	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
8	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
9	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
10	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
11	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
12	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54161600-54189800	Weak transcription	Ovary	ovary
15	chr2:54163600-54180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:54172800-54184400	Weak transcription	Brain Anterior Caudate	brain
18	chr2:54172800-54184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:54174000-54184600	Weak transcription	Left Ventricle	heart
21	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
22	chr2:54174400-54179600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr2:54174400-54180000	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:54174400-54182800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:54174400-54184200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:54174400-54184600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
29	chr2:54174600-54180400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:54175000-54179800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
32	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
33	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:54175600-54184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr2:54175800-54184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:54176000-54179800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:54176000-54184600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
41	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:54176200-54180000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:54176200-54180200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:54176200-54182800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:54176200-54184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:54176200-54184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:54176200-54184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:54176200-54188400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr2:54176200-54188400	Weak transcription	HMEC	breast
50	chr2:54176200-54188600	Weak transcription	Primary monocytes fromperipheralblood	blood

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