Variant report

Variant	rs6968618
Chromosome Location	chr7:140082363-140082364
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140075072..140077306-chr7:140082163..140084967,2	K562	blood:
2	chr7:140082007..140083740-chr7:140084020..140086777,2	K562	blood:

Variant related genes	Relation type
ENSG00000238868	Chromatin interaction
ENSG00000202472	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10231057	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs10268546	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10452839	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10452887	0.93[ASN][1000 genomes]
rs4458772	0.85[CHB][hapmap];0.88[CHD][hapmap];0.93[ASN][1000 genomes]
rs4726784	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6464724	0.87[ASW][hapmap];0.95[CEU][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6464736	0.81[ASW][hapmap];0.85[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.85[LWK][hapmap];0.84[MEX][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6956248	0.92[CHB][hapmap];0.88[JPT][hapmap];0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6961384	0.83[EUR][1000 genomes]
rs73163246	0.86[ASN][1000 genomes]
rs9791871	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022919	chr7:140043299-140120546	Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2762706	chr7:140054170-140119629	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv522190	chr7:140066411-140130663	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs6968618	AGK	cis	cerebellum	SCAN
rs6968618	NDUFB2	cis	cerebellum	SCAN
rs6968618	KEL	cis	cerebellum	SCAN
rs6968618	CREB3L2	cis	cerebellum	SCAN
rs6968618	ZC3HAV1L	cis	parietal	SCAN
rs6968618	SLC37A3	cis	cerebellum	SCAN
rs6968618	PARP12	cis	parietal	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140033600-140096000	Weak transcription	Stomach Mucosa	stomach
2	chr7:140034800-140085600	Weak transcription	Psoas Muscle	Psoas
3	chr7:140042000-140084800	Weak transcription	Hela-S3	cervix
4	chr7:140047600-140084200	Weak transcription	Fetal Brain Male	brain
5	chr7:140049200-140090200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:140052000-140097400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr7:140058600-140096000	Weak transcription	Small Intestine	intestine
8	chr7:140058800-140084400	Weak transcription	Gastric	stomach
9	chr7:140058800-140097200	Weak transcription	Brain Anterior Caudate	brain
10	chr7:140059400-140091400	Weak transcription	Fetal Heart	heart
11	chr7:140063400-140082600	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:140068000-140089000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:140069600-140091800	Weak transcription	Esophagus	oesophagus
14	chr7:140072000-140082400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:140074200-140082400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:140074800-140082400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:140075400-140082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:140075400-140082400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:140075400-140082400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:140075400-140082400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:140075600-140082400	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:140075600-140082400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:140075600-140082400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:140075600-140082400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:140075600-140082400	Strong transcription	Adipose Nuclei	Adipose
26	chr7:140075600-140082400	Strong transcription	Liver	Liver
27	chr7:140075600-140082400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr7:140075600-140082400	Strong transcription	Fetal Intestine Large	intestine
29	chr7:140075600-140082400	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:140075600-140082600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:140075600-140082600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr7:140076200-140082400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:140076400-140082400	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr7:140076400-140088800	Weak transcription	GM12878-XiMat	blood
35	chr7:140076600-140084800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr7:140076600-140090000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr7:140076600-140090200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:140076800-140082400	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr7:140076800-140082400	Strong transcription	Fetal Thymus	thymus
40	chr7:140076800-140084400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:140076800-140089600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:140076800-140089600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr7:140076800-140096200	Weak transcription	NHLF	lung
44	chr7:140077200-140082400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr7:140077200-140082400	Strong transcription	Stomach Smooth Muscle	stomach
46	chr7:140077200-140084600	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:140077400-140082400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr7:140077600-140082400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:140077600-140082400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:140077600-140082400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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