Variant report

Variant	rs6943287
Chromosome Location	chr7:7791155-7791156
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7789196..7791456-chr7:7796401..7799287,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12702642	0.93[JPT][hapmap]
rs13230086	0.84[ASN][1000 genomes]
rs13234233	0.83[ASN][1000 genomes]
rs13237260	0.93[JPT][hapmap]
rs13244344	0.83[ASN][1000 genomes]
rs17137255	0.83[ASN][1000 genomes]
rs17137257	0.83[ASN][1000 genomes]
rs2024372	0.93[JPT][hapmap]
rs2024373	0.93[JPT][hapmap]
rs2068637	0.85[JPT][hapmap]
rs2110556	0.93[JPT][hapmap]
rs2241075	0.85[JPT][hapmap]
rs34881338	0.83[ASN][1000 genomes]
rs35492695	0.84[ASN][1000 genomes]
rs35718996	0.84[ASN][1000 genomes]
rs35897634	0.83[ASN][1000 genomes]
rs4725022	0.93[JPT][hapmap]
rs62432645	0.83[ASN][1000 genomes]
rs6953290	0.93[JPT][hapmap]
rs6958302	1.00[JPT][hapmap]
rs6976771	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs717298	0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
2	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic 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	40 gene(s)	inside rSNPs	diseases
6	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv887485	chr7:7692483-7917360	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	esv2752177	chr7:7729247-8177689	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
11	nsv1026564	chr7:7734846-7897847	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv887487	chr7:7740914-7802561	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv887488	chr7:7770203-7794484	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv887489	chr7:7770203-7913311	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7759400-7791200	Weak transcription	Esophagus	oesophagus
2	chr7:7773000-7802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr7:7778600-7797400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:7779800-7796000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:7779800-7800200	Weak transcription	Thymus	Thymus
6	chr7:7783000-7791200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:7785600-7800800	Weak transcription	Primary B cells from cord blood	blood
8	chr7:7785800-7791200	Weak transcription	Psoas Muscle	Psoas
9	chr7:7786000-7791200	Weak transcription	Right Ventricle	heart
10	chr7:7786400-7791200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:7786400-7800200	Weak transcription	Fetal Thymus	thymus
12	chr7:7789800-7791600	Enhancers	Colon Smooth Muscle	Colon
13	chr7:7790200-7791800	Enhancers	HepG2	liver
14	chr7:7790400-7791600	Active TSS	Stomach Smooth Muscle	stomach
15	chr7:7790400-7801400	Weak transcription	Stomach Mucosa	stomach
16	chr7:7790600-7791200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr7:7790600-7791200	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:7790600-7791600	Enhancers	Adipose Nuclei	Adipose
19	chr7:7790600-7791600	Flanking Active TSS	Liver	Liver
20	chr7:7790800-7791200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:7790800-7791400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:7790800-7791400	Enhancers	A549	lung
23	chr7:7790800-7791400	Enhancers	GM12878-XiMat	blood
24	chr7:7790800-7791600	Enhancers	Fetal Heart	heart
25	chr7:7790800-7791600	Enhancers	Hela-S3	cervix
26	chr7:7791000-7791200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:7791000-7791200	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr7:7791000-7791200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:7791000-7791200	Enhancers	Osteobl	bone
30	chr7:7791000-7791400	Enhancers	Brain Anterior Caudate	brain
31	chr7:7791000-7791400	Enhancers	Colonic Mucosa	Colon
32	chr7:7791000-7791600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr7:7791000-7791600	Enhancers	Fetal Intestine Small	intestine
34	chr7:7791000-7791600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:7791000-7791600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr7:7791000-7795200	Weak transcription	Brain Substantia Nigra	brain
37	chr7:7791000-7801400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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