Variant report

Variant	rs989100
Chromosome Location	chr7:127220918-127220919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127204431..127206594-chr7:127219494..127222300,2	MCF-7	breast:
2	7:127009457-127018926..7:127216013-127221502	GM12878	blood:
3	chr7:127200505..127203389-chr7:127219797..127221382,2	K562	blood:

Variant related genes	Relation type
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1090682	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1090683	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12536382	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs2073561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2582717	0.81[CEU][hapmap]
rs327510	0.95[CEU][hapmap];0.85[GIH][hapmap];0.82[EUR][1000 genomes]
rs327511	0.82[EUR][1000 genomes]
rs327512	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs327516	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs327521	0.81[EUR][1000 genomes]
rs3735642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3735644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3757793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55791028	0.85[ASN][1000 genomes]
rs594141	0.87[EUR][1000 genomes]
rs62481355	0.85[ASN][1000 genomes]
rs67719649	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs698406	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712697	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712698	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712699	0.83[EUR][1000 genomes]
rs712700	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs712701	1.00[CEU][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs712703	1.00[CEU][hapmap];0.92[GIH][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs712704	1.00[CEU][hapmap];0.92[GIH][hapmap];0.89[TSI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72607743	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs806175	0.81[CEU][hapmap];1.00[LWK][hapmap]
rs806192	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs806193	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs806195	0.84[EUR][1000 genomes]
rs806196	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs806214	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs806215	1.00[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806216	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs806218	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs806219	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.88[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs989099	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127200600-127221400	Weak transcription	Pancreas	Pancrea
2	chr7:127203600-127221400	Weak transcription	Left Ventricle	heart
3	chr7:127204400-127221000	Weak transcription	Aorta	Aorta
4	chr7:127208800-127221000	Weak transcription	Brain Anterior Caudate	brain
5	chr7:127209600-127221600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr7:127210200-127221600	Weak transcription	Small Intestine	intestine
7	chr7:127210400-127221000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:127210600-127221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:127212800-127221400	Weak transcription	Spleen	Spleen
10	chr7:127213000-127221200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:127213400-127221000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr7:127213400-127221400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:127213600-127221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:127214600-127222000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr7:127214800-127221000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:127215000-127222000	Strong transcription	Fetal Muscle Leg	muscle
17	chr7:127215200-127221200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr7:127215200-127221200	Weak transcription	HMEC	breast
19	chr7:127215200-127221400	Weak transcription	Fetal Intestine Small	intestine
20	chr7:127215800-127221200	Weak transcription	Gastric	stomach
21	chr7:127216200-127222000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:127216800-127221200	Weak transcription	HUVEC	blood vessel
23	chr7:127216800-127222200	Weak transcription	Stomach Mucosa	stomach
24	chr7:127217000-127221200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:127217200-127221200	Weak transcription	Ovary	ovary
26	chr7:127217600-127221000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr7:127217600-127221400	Strong transcription	Fetal Thymus	thymus
28	chr7:127218000-127221000	Strong transcription	Placenta	Placenta
29	chr7:127218000-127221600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:127218000-127221800	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr7:127218000-127222000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:127218000-127222000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr7:127218000-127222200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:127218000-127222800	Weak transcription	Hela-S3	cervix
35	chr7:127218000-127223000	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr7:127218000-127223200	Strong transcription	Primary B cells from cord blood	blood
37	chr7:127218000-127223400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:127218000-127223400	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr7:127218200-127221000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr7:127218200-127221200	Weak transcription	Fetal Lung	lung
41	chr7:127218200-127221400	Weak transcription	Fetal Kidney	kidney
42	chr7:127218200-127221600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:127218200-127223200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:127218200-127223600	Strong transcription	Primary hematopoietic stem cells	blood
45	chr7:127218200-127223600	Strong transcription	Fetal Intestine Large	intestine
46	chr7:127218200-127223800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:127218400-127221000	Weak transcription	Dnd41	blood
48	chr7:127218400-127221200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr7:127218400-127222200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:127218600-127221200	Weak transcription	A549	lung

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