Variant report

Variant	rs6998505
Chromosome Location	chr8:67606043-67606044
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:67600651..67604316-chr8:67605884..67608983,3	MCF-7	breast:
2	chr8:67600642..67606358-chr8:67622899..67628495,9	MCF-7	breast:
3	chr8:67581181..67583543-chr8:67604665..67607140,2	K562	blood:

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 128 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs10504393	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985572	1.00[CEU][hapmap]
rs11986831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987253	0.96[EUR][1000 genomes]
rs11987254	0.96[EUR][1000 genomes]
rs11987271	0.92[EUR][1000 genomes]
rs11987311	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11988213	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11990322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs11990461	1.00[CEU][hapmap]
rs11990636	1.00[CEU][hapmap]
rs11992252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993306	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs11993354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs11994827	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995031	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995253	0.85[EUR][1000 genomes]
rs11995256	1.00[CEU][hapmap]
rs11995291	0.88[EUR][1000 genomes]
rs11996861	1.00[CEU][hapmap]
rs11997260	1.00[CEU][hapmap]
rs11997554	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997967	1.00[CEU][hapmap]
rs11998194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998301	1.00[CEU][hapmap]
rs12114734	1.00[CEU][hapmap]
rs12114868	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs16932985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs16932996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes]
rs16933013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933034	1.00[CEU][hapmap]
rs16933036	1.00[CEU][hapmap]
rs16933039	1.00[CEU][hapmap]
rs16933057	1.00[CEU][hapmap]
rs16933060	1.00[CEU][hapmap]
rs16933065	1.00[CEU][hapmap]
rs16933071	1.00[CEU][hapmap]
rs16933079	1.00[CEU][hapmap]
rs16933080	1.00[CEU][hapmap]
rs16933092	1.00[CEU][hapmap]
rs16933094	1.00[CEU][hapmap]
rs2357998	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2358000	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs28432871	0.88[EUR][1000 genomes]
rs28572179	0.88[EUR][1000 genomes]
rs28589429	0.88[EUR][1000 genomes]
rs34301114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35078037	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35353562	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35517376	1.00[CEU][hapmap]
rs3808602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs3857962	1.00[CEU][hapmap]
rs3913346	1.00[CEU][hapmap]
rs3929419	1.00[CEU][hapmap]
rs4345540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534119	1.00[CEU][hapmap]
rs56682762	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56742359	0.88[EUR][1000 genomes]
rs56810217	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56911449	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57125106	1.00[EUR][1000 genomes]
rs57351080	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57858031	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58454063	0.88[EUR][1000 genomes]
rs58806068	0.88[EUR][1000 genomes]
rs59058682	1.00[ASN][1000 genomes]
rs59089124	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59410806	0.96[EUR][1000 genomes]
rs59643912	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60165103	0.85[EUR][1000 genomes]
rs60655524	0.84[EUR][1000 genomes]
rs60784079	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61469007	0.88[EUR][1000 genomes]
rs61589642	1.00[ASN][1000 genomes]
rs6472285	1.00[CEU][hapmap]
rs6982202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6982407	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983632	1.00[CEU][hapmap]
rs6984447	1.00[CEU][hapmap]
rs6985273	1.00[CEU][hapmap]
rs6986439	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6986940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[EUR][1000 genomes]
rs6987665	1.00[CEU][hapmap]
rs6988670	0.88[EUR][1000 genomes]
rs6991992	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998252	1.00[CEU][hapmap]
rs6998718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998777	1.00[CEU][hapmap]
rs7002479	1.00[CEU][hapmap]
rs7003548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes]
rs7015619	1.00[CEU][hapmap]
rs7017471	1.00[CEU][hapmap]
rs73248113	0.88[EUR][1000 genomes]
rs73248122	0.88[EUR][1000 genomes]
rs73248134	0.88[EUR][1000 genomes]
rs73248138	0.88[EUR][1000 genomes]
rs73250233	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73250238	0.96[EUR][1000 genomes]
rs73250241	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73250244	0.96[EUR][1000 genomes]
rs73250249	0.96[EUR][1000 genomes]
rs73250250	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73250252	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73250262	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73251887	0.96[EUR][1000 genomes]
rs73253909	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253964	1.00[ASN][1000 genomes]
rs73253968	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261704	0.88[EUR][1000 genomes]
rs73261763	0.88[EUR][1000 genomes]
rs73261767	0.88[EUR][1000 genomes]
rs7820420	1.00[CHB][hapmap]
rs7828492	0.88[EUR][1000 genomes]
rs7830436	0.88[EUR][1000 genomes]
rs7840192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844944	0.88[EUR][1000 genomes]
rs957655	1.00[CHB][hapmap]
rs979679	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67580600-67624400	Weak transcription	Aorta	Aorta
2	chr8:67580600-67624400	Weak transcription	Ovary	ovary
3	chr8:67580800-67609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:67580800-67609200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:67580800-67623600	Weak transcription	Colonic Mucosa	Colon
6	chr8:67581000-67624600	Weak transcription	Spleen	Spleen
7	chr8:67581600-67624000	Weak transcription	Fetal Brain Male	brain
8	chr8:67582400-67614200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:67587600-67609000	Weak transcription	A549	lung
10	chr8:67587600-67614200	Weak transcription	Fetal Heart	heart
11	chr8:67588400-67607600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr8:67593000-67609200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr8:67595400-67608600	Weak transcription	HepG2	liver
14	chr8:67598800-67614200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:67601200-67606400	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr8:67601800-67606200	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr8:67601800-67606200	Strong transcription	Brain Germinal Matrix	brain
18	chr8:67601800-67606400	Strong transcription	Fetal Stomach	stomach
19	chr8:67602000-67606400	Strong transcription	Fetal Intestine Small	intestine
20	chr8:67602200-67607000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:67602400-67614200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:67602800-67609000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:67602800-67609600	Weak transcription	HSMM	muscle
24	chr8:67602800-67623800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:67602800-67624000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:67603000-67606600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr8:67603000-67607000	Weak transcription	Left Ventricle	heart
28	chr8:67603000-67607600	Weak transcription	Thymus	Thymus
29	chr8:67603000-67607800	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:67603000-67609600	Weak transcription	Colon Smooth Muscle	Colon
31	chr8:67603000-67611200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:67603000-67612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr8:67603000-67615200	Weak transcription	Fetal Lung	lung
34	chr8:67603000-67623800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr8:67603200-67607200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr8:67603200-67607400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:67603200-67607800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:67603200-67607800	Weak transcription	NHDF-Ad	bronchial
39	chr8:67603200-67609000	Weak transcription	Brain Substantia Nigra	brain
40	chr8:67603200-67611800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr8:67603200-67614200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:67603200-67617800	Weak transcription	GM12878-XiMat	blood
43	chr8:67603200-67623200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr8:67603200-67624600	Weak transcription	Lung	lung
45	chr8:67603400-67607200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr8:67603400-67613400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:67603400-67619600	Weak transcription	Brain Angular Gyrus	brain
48	chr8:67603400-67623000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:67603400-67624200	Weak transcription	Fetal Brain Female	brain
50	chr8:67603400-67624400	Weak transcription	Placenta	Placenta

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