Variant report

Variant	rs6964631
Chromosome Location	chr7:108129884-108129885
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	chr7:108127744..108131124-chr7:108135356..108137737,3	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10953572	0.80[EUR][1000 genomes]
rs10953573	0.80[EUR][1000 genomes]
rs11971386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11977071	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11983802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983842	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530879	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536929	0.80[EUR][1000 genomes]
rs12538539	1.00[ASW][hapmap];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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540029	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705474	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13224588	0.81[ASN][1000 genomes]
rs13239792	0.90[ASN][1000 genomes]
rs16872576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16872577	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17134769	0.90[CEU][hapmap];1.00[CHB][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34164886	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34459886	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34771129	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34827770	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34915298	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34959248	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35220845	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35444439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35687881	0.80[EUR][1000 genomes]
rs3752639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3763463	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60117684	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6980319	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71568523	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71568524	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71568525	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71568529	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71568531	0.82[ASN][1000 genomes]
rs71568533	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7786180	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641410	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641411	0.90[CEU][hapmap];0.90[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]

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	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
2	esv2753284	chr7:108105345-108130214	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6964631	NRCAM	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:108098200-108140600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:108102400-108137000	Weak transcription	NH-A	brain
3	chr7:108102400-108143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:108102800-108158400	Weak transcription	HSMMtube	muscle
5	chr7:108105800-108158000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr7:108106200-108150800	Weak transcription	NHLF	lung
7	chr7:108106800-108130000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr7:108107600-108141000	Weak transcription	Spleen	Spleen
9	chr7:108109000-108136400	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:108109000-108141400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:108109000-108162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr7:108109600-108140600	Weak transcription	Esophagus	oesophagus
13	chr7:108109600-108143400	Weak transcription	GM12878-XiMat	blood
14	chr7:108111000-108137800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr7:108111400-108142200	Strong transcription	Liver	Liver
16	chr7:108111400-108154800	Weak transcription	NHEK	skin
17	chr7:108111600-108138400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:108111600-108142600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:108111800-108143600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr7:108113200-108157000	Weak transcription	Psoas Muscle	Psoas
21	chr7:108113600-108140000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:108113800-108150800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr7:108113800-108165800	Weak transcription	Gastric	stomach
24	chr7:108114000-108139800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:108114000-108165000	Weak transcription	Colonic Mucosa	Colon
26	chr7:108114400-108160000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr7:108114600-108132000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:108114800-108134800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr7:108115200-108151800	Weak transcription	NHDF-Ad	bronchial
30	chr7:108115800-108132000	Weak transcription	A549	lung
31	chr7:108116400-108141400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr7:108117200-108150600	Weak transcription	Colon Smooth Muscle	Colon
33	chr7:108117200-108151800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:108117800-108164200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr7:108119200-108157600	Weak transcription	Brain Germinal Matrix	brain
36	chr7:108119600-108131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr7:108119600-108132000	Weak transcription	Right Ventricle	heart
38	chr7:108119600-108134600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr7:108119600-108136800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:108119600-108137000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:108119800-108131800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:108119800-108131800	Weak transcription	Placenta	Placenta
43	chr7:108119800-108132000	Weak transcription	Dnd41	blood
44	chr7:108119800-108137600	Weak transcription	Brain Anterior Caudate	brain
45	chr7:108119800-108139800	Weak transcription	Brain Angular Gyrus	brain
46	chr7:108119800-108139800	Weak transcription	Brain Cingulate Gyrus	brain
47	chr7:108119800-108140000	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:108119800-108140200	Weak transcription	Brain Substantia Nigra	brain
49	chr7:108119800-108140600	Weak transcription	Lung	lung
50	chr7:108119800-108140600	Weak transcription	Ovary	ovary

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