Variant report

Variant	rs7555415
Chromosome Location	chr1:214651009-214651010
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:214648961..214651838-chr1:214664599..214667382,2	K562	blood:
2	chr1:214649931..214651947-chr1:214652259..214654963,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10494980	0.84[CHB][hapmap]
rs10746445	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10746446	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10864101	0.92[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap]
rs10864102	0.92[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.82[MKK][hapmap]
rs11120303	1.00[ASW][hapmap]
rs11120321	1.00[CEU][hapmap]
rs11120329	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs11120330	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs11120334	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12059328	1.00[ASW][hapmap]
rs12068677	0.92[CHB][hapmap]
rs12128034	0.91[CHB][hapmap]
rs12743237	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs17023030	0.83[CHB][hapmap]
rs4130486	0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4233305	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4233306	0.84[CHB][hapmap]
rs4233307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4253891	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4301608	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4421564	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4451529	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4465172	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHD][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4539105	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.88[MEX][hapmap];0.86[MKK][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4655249	1.00[ASW][hapmap];0.84[TSI][hapmap]
rs4655250	0.92[CHB][hapmap]
rs4655251	0.92[CHB][hapmap]
rs4655252	0.92[CHB][hapmap]
rs4655253	0.92[CHB][hapmap]
rs4655254	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs4655255	0.91[CHB][hapmap]
rs4655347	0.92[CHB][hapmap]
rs5020616	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs5020617	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs6540831	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6540835	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs6540836	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6540839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6540840	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6665797	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6668440	0.92[CHB][hapmap];0.90[JPT][hapmap]
rs6682987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7518513	0.90[CHB][hapmap]
rs7528679	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7528775	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7528800	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7535598	1.00[CEU][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7537159	0.85[ASN][1000 genomes]
rs7537274	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7555415	HHAT	cis	parietal	SCAN
rs7555415	PTPN14	cis	parietal	SCAN
rs7555415	RPS6KC1	cis	cerebellum	SCAN

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214641400-214667800	Weak transcription	Hela-S3	cervix
2	chr1:214644600-214651400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:214645000-214651800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:214645200-214656600	Weak transcription	Fetal Intestine Large	intestine
5	chr1:214645800-214666000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr1:214646000-214672200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:214646200-214651800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:214647200-214661600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:214647400-214651200	Enhancers	Psoas Muscle	Psoas
10	chr1:214648000-214651800	Enhancers	A549	lung
11	chr1:214648000-214669400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:214648800-214651400	Enhancers	NHDF-Ad	bronchial
13	chr1:214648800-214651800	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr1:214648800-214652200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:214649000-214651200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:214649200-214651600	Enhancers	Colon Smooth Muscle	Colon
17	chr1:214649200-214660800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:214649400-214651200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:214649400-214651200	Enhancers	Left Ventricle	heart
20	chr1:214649400-214651200	Enhancers	Ovary	ovary
21	chr1:214649400-214651200	Enhancers	Pancreas	Pancrea
22	chr1:214649400-214651200	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:214649400-214651800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr1:214649600-214651200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:214649600-214652600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:214649800-214651200	Enhancers	NHLF	lung
27	chr1:214650000-214651200	Enhancers	Fetal Lung	lung
28	chr1:214650200-214651600	Enhancers	Rectal Smooth Muscle	rectum
29	chr1:214650200-214651800	Enhancers	HSMMtube	muscle
30	chr1:214650200-214652200	Enhancers	Osteobl	bone
31	chr1:214650200-214657400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:214650200-214658000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr1:214650200-214666000	Weak transcription	Fetal Muscle Leg	muscle
34	chr1:214650400-214651200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr1:214650400-214651600	Enhancers	Fetal Heart	heart
36	chr1:214650400-214652200	Enhancers	HSMM	muscle
37	chr1:214650400-214652600	Enhancers	HUVEC	blood vessel
38	chr1:214650600-214651200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:214650600-214651200	Enhancers	Adipose Nuclei	Adipose
40	chr1:214650600-214651600	Flanking Active TSS	NHEK	skin
41	chr1:214650600-214654000	Weak transcription	Gastric	stomach
42	chr1:214650600-214657400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:214650800-214651200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:214650800-214651800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr1:214650800-214651800	Enhancers	NH-A	brain
46	chr1:214650800-214652000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:214650800-214656400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:214650800-214657400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:214650800-214660000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:214650800-214662600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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