Variant report

Variant	rs6970044
Chromosome Location	chr7:120467925-120467926
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120467470..120469909-chr7:120470900..120473460,2	MCF-7	breast:
2	chr7:120466725..120468926-chr7:120474819..120476426,2	K562	blood:
3	chr7:120466453..120467996-chr7:120471169..120473699,2	K562	blood:
4	chr7:120467426..120469359-chr7:120473701..120476319,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10085399	1.00[AMR][1000 genomes]
rs10085545	1.00[AMR][1000 genomes]
rs10156133	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224694	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs10227371	1.00[AMR][1000 genomes]
rs10228463	1.00[AMR][1000 genomes]
rs10231429	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239339	1.00[AMR][1000 genomes]
rs10241872	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243869	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10249042	0.90[AFR][1000 genomes]
rs10256185	1.00[AMR][1000 genomes]
rs10260155	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262473	1.00[MKK][hapmap]
rs10269373	1.00[AMR][1000 genomes]
rs10277685	1.00[AMR][1000 genomes]
rs10281679	1.00[AMR][1000 genomes]
rs12531744	1.00[AMR][1000 genomes]
rs12537910	1.00[AMR][1000 genomes]
rs12538483	1.00[AMR][1000 genomes]
rs12539312	1.00[AMR][1000 genomes]
rs12539365	1.00[AMR][1000 genomes]
rs12540028	1.00[AMR][1000 genomes]
rs12540031	1.00[AMR][1000 genomes]
rs28366865	1.00[AMR][1000 genomes]
rs28545438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582920	1.00[AMR][1000 genomes]
rs28627810	1.00[AMR][1000 genomes]
rs28676720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28696320	1.00[AMR][1000 genomes]
rs6946429	1.00[AMR][1000 genomes]
rs6959281	1.00[AMR][1000 genomes]
rs6966333	1.00[AMR][1000 genomes]
rs7791680	1.00[AMR][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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv5929	chr7:120467591-120513472	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6970044	NCRNA00174	trans	lymphoblastoid	seeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120425600-120470400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr7:120430400-120468200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr7:120432600-120468400	Weak transcription	Lung	lung
4	chr7:120439400-120469200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:120443000-120488000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:120445200-120494400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr7:120446000-120476200	Weak transcription	Left Ventricle	heart
8	chr7:120447400-120471400	Weak transcription	Fetal Kidney	kidney
9	chr7:120449800-120476000	Weak transcription	HUVEC	blood vessel
10	chr7:120450600-120470400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:120452800-120476000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:120455600-120468400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:120455600-120472200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:120455800-120474400	Weak transcription	Fetal Intestine Large	intestine
15	chr7:120455800-120476000	Weak transcription	Fetal Muscle Leg	muscle
16	chr7:120458200-120468400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:120458400-120475800	Weak transcription	Fetal Intestine Small	intestine
18	chr7:120460400-120469400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr7:120464000-120476000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:120465800-120468600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:120466000-120473600	Weak transcription	Fetal Lung	lung
22	chr7:120466000-120479600	Weak transcription	Ovary	ovary
23	chr7:120466400-120470600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:120466600-120468000	Weak transcription	Fetal Stomach	stomach
25	chr7:120466600-120476200	Weak transcription	Gastric	stomach
26	chr7:120466800-120482400	Weak transcription	Small Intestine	intestine
27	chr7:120467000-120476200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr7:120467400-120469000	Enhancers	Liver	Liver
29	chr7:120467600-120468400	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:120467800-120468200	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:120467800-120468400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:120467800-120468400	Enhancers	Colon Smooth Muscle	Colon
33	chr7:120467800-120468400	Enhancers	Fetal Heart	heart
34	chr7:120467800-120468600	Enhancers	Pancreas	Pancrea

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