Variant report

Variant	rs4971177
Chromosome Location	chr1:157989668-157989669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:157980406..157983368-chr1:157988556..157991541,2	K562	blood:
2	chr1:157987648..157990014-chr1:158000833..158002495,2	MCF-7	breast:
3	chr1:157984297..157985914-chr1:157988656..157990593,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11264874	0.80[ASN][1000 genomes]
rs11264878	0.93[YRI][hapmap]
rs12037357	0.87[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap]
rs12039337	0.86[GIH][hapmap]
rs1925038	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1972216	0.89[ASW][hapmap];0.82[CEU][hapmap];0.90[GIH][hapmap];0.96[LWK][hapmap];0.92[MKK][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2224932	1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs4445460	0.82[CEU][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4971174	1.00[CEU][hapmap];0.85[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4971179	0.82[CEU][hapmap];0.90[GIH][hapmap]
rs4971180	0.82[CEU][hapmap]
rs4971183	0.82[CEU][hapmap];0.90[GIH][hapmap]
rs5018263	0.92[JPT][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6427415	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6661149	0.82[CEU][hapmap]
rs6665898	0.82[CEU][hapmap];0.93[YRI][hapmap]
rs6666443	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6680191	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7414379	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7527064	0.80[ASN][1000 genomes]
rs7530591	0.80[ASN][1000 genomes]
rs7537784	1.00[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7548850	0.88[LWK][hapmap];0.93[YRI][hapmap]
rs7554764	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7555783	0.92[JPT][hapmap];0.80[ASN][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	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:157979800-157991000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:157982400-157991000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
5	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
6	chr1:157985000-157989800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
10	chr1:157985400-157993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:157985600-157991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:157986000-157993000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr1:157986000-157993200	Enhancers	Placenta	Placenta
14	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:157986400-157990400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:157986400-157993000	Enhancers	Ovary	ovary
17	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
18	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
19	chr1:157986600-157990200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:157987000-157990800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:157987000-157991000	Weak transcription	Small Intestine	intestine
22	chr1:157987000-157993200	Enhancers	Fetal Stomach	stomach
23	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:157987400-157990000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:157987400-157990200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:157987400-157990400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr1:157987600-157990400	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr1:157987600-157991200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:157987600-157993000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr1:157987800-157990600	Flanking Active TSS	A549	lung
31	chr1:157987800-157991200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:157987800-157991400	Enhancers	Fetal Heart	heart
33	chr1:157987800-157993000	Enhancers	Colon Smooth Muscle	Colon
34	chr1:157987800-157993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:157988000-157990000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:157988000-157990200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:157988000-157990200	Enhancers	Lung	lung
38	chr1:157988000-157990200	Enhancers	Right Atrium	heart
39	chr1:157988000-157993400	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:157988200-157990200	Enhancers	Stomach Mucosa	stomach
41	chr1:157988200-157991400	Enhancers	Fetal Intestine Large	intestine
42	chr1:157988200-157991400	Enhancers	Fetal Intestine Small	intestine
43	chr1:157988200-157993400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr1:157988400-157990000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr1:157988400-157990200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:157988400-157990600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:157988400-157992400	Weak transcription	Esophagus	oesophagus
48	chr1:157988400-157993600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:157988600-157990200	Enhancers	Pancreas	Pancrea
50	chr1:157988600-157991200	Weak transcription	Colonic Mucosa	Colon

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