Variant report

Variant	rs335701
Chromosome Location	chr15:76207365-76207366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:76195569..76197871-chr15:76205442..76207733,2	K562	blood:
2	chr15:76194938..76197869-chr15:76206105..76209095,4	MCF-7	breast:
3	chr15:76206066..76207638-chr15:76207776..76210184,2	K562	blood:
4	chr15:76196239..76198362-chr15:76207161..76208693,2	MCF-7	breast:
5	chr15:76195569..76197871-chr15:76204617..76208764,4	K562	blood:
6	chr15:76198419..76200279-chr15:76206976..76209395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167196	Chromatin interaction

Extended variants
information (count: 175 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs1039547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10468062	0.90[AFR][1000 genomes]
rs13379955	1.00[EUR][1000 genomes]
rs1394122	1.00[EUR][1000 genomes]
rs1498196	1.00[EUR][1000 genomes]
rs1498197	1.00[EUR][1000 genomes]
rs1498198	1.00[EUR][1000 genomes]
rs1503955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1562403	1.00[EUR][1000 genomes]
rs1695365	1.00[EUR][1000 genomes]
rs16967747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1910510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1976328	1.00[EUR][1000 genomes]
rs2133099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2133408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2133409	1.00[EUR][1000 genomes]
rs2133410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2405578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441928	1.00[EUR][1000 genomes]
rs2454209	1.00[EUR][1000 genomes]
rs2454212	1.00[EUR][1000 genomes]
rs2454470	1.00[EUR][1000 genomes]
rs2454472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2455897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460799	0.85[AFR][1000 genomes]
rs2460801	1.00[EUR][1000 genomes]
rs2469038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2469040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593275	1.00[EUR][1000 genomes]
rs2593281	1.00[EUR][1000 genomes]
rs2593302	1.00[EUR][1000 genomes]
rs2604405	1.00[EUR][1000 genomes]
rs2648437	1.00[EUR][1000 genomes]
rs2655126	1.00[EUR][1000 genomes]
rs2655137	1.00[EUR][1000 genomes]
rs2947239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2959851	1.00[EUR][1000 genomes]
rs334923	1.00[EUR][1000 genomes]
rs334937	1.00[EUR][1000 genomes]
rs334939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334941	1.00[EUR][1000 genomes]
rs334951	1.00[EUR][1000 genomes]
rs335673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335675	0.85[EUR][1000 genomes]
rs335676	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs335678	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs335679	1.00[EUR][1000 genomes]
rs335683	1.00[EUR][1000 genomes]
rs335684	1.00[EUR][1000 genomes]
rs335687	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335693	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs335694	1.00[EUR][1000 genomes]
rs335695	1.00[EUR][1000 genomes]
rs335700	1.00[EUR][1000 genomes]
rs335710	0.85[EUR][1000 genomes]
rs335713	1.00[EUR][1000 genomes]
rs335717	1.00[EUR][1000 genomes]
rs335724	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482249	1.00[EUR][1000 genomes]
rs4489969	1.00[EUR][1000 genomes]
rs4886750	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55665712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55719276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55782145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56139080	1.00[EUR][1000 genomes]
rs56167836	1.00[EUR][1000 genomes]
rs56173902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56218266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57127155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57141410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57429900	1.00[EUR][1000 genomes]
rs57737646	1.00[EUR][1000 genomes]
rs57968453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57971067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57973358	1.00[EUR][1000 genomes]
rs58044283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170668	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58399164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58717562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58789594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143042	1.00[EUR][1000 genomes]
rs59690620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59819402	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59839117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60088262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60155009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60191258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60817295	1.00[EUR][1000 genomes]
rs60846313	1.00[EUR][1000 genomes]
rs61240117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61521312	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62027568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180064	1.00[EUR][1000 genomes]
rs7181550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024005	1.00[EUR][1000 genomes]
rs74024006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024011	1.00[EUR][1000 genomes]
rs74024014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024015	1.00[EUR][1000 genomes]
rs74024016	1.00[EUR][1000 genomes]
rs74024017	1.00[EUR][1000 genomes]
rs74024019	1.00[AMR][1000 genomes]
rs74024020	1.00[EUR][1000 genomes]
rs74024021	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74024022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024029	1.00[EUR][1000 genomes]
rs74024030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024035	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024038	1.00[EUR][1000 genomes]
rs74024039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024041	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024043	1.00[EUR][1000 genomes]
rs74024044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024047	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024048	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024049	1.00[EUR][1000 genomes]
rs74024051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028766	1.00[EUR][1000 genomes]
rs8030469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8030948	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8031263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8034430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035611	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036952	1.00[EUR][1000 genomes]
rs8038729	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9672219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs974718	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv1053717	chr15:76196674-76314542	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1040053	chr15:76197988-76314542	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76197000-76210800	Weak transcription	Aorta	Aorta
2	chr15:76197000-76214600	Weak transcription	Small Intestine	intestine
3	chr15:76197200-76216800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:76197200-76216800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr15:76197600-76210200	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:76197800-76214400	Weak transcription	Stomach Mucosa	stomach
7	chr15:76197800-76217400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr15:76198000-76214400	Weak transcription	Esophagus	oesophagus
9	chr15:76198000-76214400	Weak transcription	Pancreas	Pancrea
10	chr15:76198000-76214600	Weak transcription	Right Ventricle	heart
11	chr15:76198000-76231600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:76198200-76208000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:76198200-76232200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:76198400-76208600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr15:76198400-76214200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:76198400-76225000	Weak transcription	Fetal Kidney	kidney
17	chr15:76198600-76217000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:76198600-76226400	Weak transcription	Fetal Brain Male	brain
19	chr15:76199000-76208600	Weak transcription	NHLF	lung
20	chr15:76199000-76215800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:76199200-76212000	Weak transcription	Psoas Muscle	Psoas
22	chr15:76201200-76207600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:76201200-76214400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr15:76201800-76208600	Weak transcription	Fetal Heart	heart
25	chr15:76202200-76207600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr15:76203800-76210200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr15:76203800-76230200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr15:76204800-76207600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:76205200-76211000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:76205200-76213200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr15:76205400-76207400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:76205400-76207400	Strong transcription	Primary hematopoietic stem cells	blood
33	chr15:76205400-76207400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:76205400-76207400	Strong transcription	Liver	Liver
35	chr15:76205400-76207400	Strong transcription	Brain Germinal Matrix	brain
36	chr15:76205400-76207400	Strong transcription	Colon Smooth Muscle	Colon
37	chr15:76205400-76207400	Strong transcription	Fetal Lung	lung
38	chr15:76205400-76207400	Strong transcription	Stomach Smooth Muscle	stomach
39	chr15:76205400-76207400	Strong transcription	NH-A	brain
40	chr15:76205400-76207600	Strong transcription	Primary B cells from cord blood	blood
41	chr15:76205400-76207600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr15:76205400-76207600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:76205400-76207600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr15:76205400-76207600	Strong transcription	Fetal Intestine Large	intestine
45	chr15:76205400-76207600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr15:76205400-76207600	Strong transcription	HSMM	muscle
47	chr15:76205400-76207800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:76205400-76209000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:76205400-76212000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:76205400-76212200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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