Variant report

Variant	rs805308
Chromosome Location	chr2:54194934-54194935
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:54194718-54195048	T-47D	breast:	n/a	n/a
2	GATA3	chr2:54194707-54195077	T-47D	breast:	n/a	n/a
3	WRNIP1	chr2:54194825-54195038	GM12878	blood:	n/a	n/a
4	ZNF384	chr2:54194563-54195040	K562	blood:	n/a	n/a
5	ZNF384	chr2:54194566-54195061	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:54165576..54167252-chr2:54193257..54196468,3	K562	blood:
2	chr2:54186673..54188652-chr2:54193510..54195241,2	MCF-7	breast:
3	chr2:54185625..54188123-chr2:54194333..54197670,3	MCF-7	breast:
4	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:
5	chr2:54157567..54166967-chr2:54194910..54201681,12	MCF-7	breast:
6	chr2:54176939..54180611-chr2:54194148..54196574,3	K562	blood:
7	chr2:54194885..54197429-chr2:55459526..55461126,2	MCF-7	breast:
8	chr2:54194904..54197235-chr2:54307312..54309509,2	K562	blood:

No data

Variant related genes	Relation type
ACYP2	TF binding region
ENSG00000143947	Chromatin interaction
ENSG00000068878	Chromatin interaction
ENSG00000241114	Chromatin interaction
ENSG00000162994	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10084355	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10201364	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10203576	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1058320	0.89[CEU][hapmap]
rs1075265	0.89[CEU][hapmap]
rs11125519	0.86[AMR][1000 genomes]
rs11683654	0.94[CHB][hapmap]
rs11687324	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12616212	0.86[EUR][1000 genomes]
rs12713253	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13414393	0.86[CHB][hapmap]
rs1363062	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1363063	0.90[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1421617	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1421622	0.85[AMR][1000 genomes]
rs17268179	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2111868	0.88[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2287642	0.89[CEU][hapmap]
rs2884254	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909460	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4671872	0.82[CEU][hapmap]
rs6545376	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545378	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6545388	0.82[CEU][hapmap]
rs6715488	0.80[EUR][1000 genomes]
rs6724389	0.90[CEU][hapmap];0.89[EUR][1000 genomes]
rs6749817	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs698858	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs718872	0.89[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7566894	0.82[CEU][hapmap]
rs7569214	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7569370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7571086	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7609017	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805309	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805322	0.85[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805335	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805341	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805342	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805343	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805345	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805358	0.84[AMR][1000 genomes]
rs805359	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs805360	0.87[CHB][hapmap]
rs805361	0.84[AMR][1000 genomes]
rs805366	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805367	0.86[CEU][hapmap];0.94[CHB][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805373	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs805374	0.93[CHB][hapmap];0.82[JPT][hapmap];0.80[EUR][1000 genomes]
rs805375	0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805379	0.82[AMR][1000 genomes]
rs805380	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805391	0.83[AMR][1000 genomes]
rs805392	0.82[AMR][1000 genomes]
rs805393	0.81[AMR][1000 genomes]
rs805402	0.85[AMR][1000 genomes]
rs805410	0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs805412	0.94[CHB][hapmap];0.83[JPT][hapmap]
rs805421	0.86[AMR][1000 genomes]
rs805422	0.80[AMR][1000 genomes]
rs805423	0.81[CEU][hapmap];0.93[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes]
rs805424	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805438	0.85[CEU][hapmap]
rs805439	0.85[CEU][hapmap]
rs805444	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805450	0.89[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805453	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs809280	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs918357	0.89[CEU][hapmap]
rs929734	0.89[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs805308	ACYP2	cis	Muscle Skeletal	GTEx
rs805308	ACYP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
3	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
4	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
7	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
8	chr2:54176400-54195000	Weak transcription	HSMM	muscle
9	chr2:54177800-54195400	Weak transcription	Right Ventricle	heart
10	chr2:54180000-54195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr2:54188400-54195400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:54188600-54195200	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:54188800-54195800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr2:54189000-54195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:54189400-54195400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr2:54189600-54195600	Weak transcription	Fetal Kidney	kidney
17	chr2:54189800-54196400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:54190000-54196400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:54190200-54195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:54190400-54195600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:54190400-54195600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:54190400-54197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:54190600-54195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:54190600-54195400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:54190600-54195800	Weak transcription	Colonic Mucosa	Colon
26	chr2:54190600-54196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:54190600-54197000	Weak transcription	Esophagus	oesophagus
28	chr2:54190800-54195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:54191800-54195200	Enhancers	Psoas Muscle	Psoas
30	chr2:54191800-54195800	Enhancers	Primary B cells from peripheral blood	blood
31	chr2:54192000-54195400	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:54192200-54195400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr2:54192400-54195400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:54192400-54195400	Enhancers	Lung	lung
35	chr2:54192400-54195400	Weak transcription	A549	lung
36	chr2:54192400-54195600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:54192400-54195600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:54192400-54196000	Enhancers	Primary T cells fromperipheralblood	blood
39	chr2:54192600-54195000	Weak transcription	Liver	Liver
40	chr2:54192600-54195000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:54192600-54195400	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:54192600-54195400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:54192600-54195600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr2:54192600-54195600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:54192600-54195600	Weak transcription	Stomach Mucosa	stomach
46	chr2:54192600-54196400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr2:54192600-54197000	Weak transcription	Spleen	Spleen
48	chr2:54192800-54195400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:54192800-54195400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:54192800-54195800	Weak transcription	H1 Cell Line	embryonic stem cell

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