Variant report

Variant	rs6917635
Chromosome Location	chr6:119771337-119771338
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	chr6:119770080..119773062-chr6:119774639..119776880,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12212187	1.00[ASN][1000 genomes]
rs17080933	1.00[ASN][1000 genomes]
rs17080935	1.00[ASN][1000 genomes]
rs17081041	1.00[ASN][1000 genomes]
rs17514279	1.00[ASN][1000 genomes]
rs6941681	1.00[ASN][1000 genomes]
rs72963165	1.00[ASN][1000 genomes]
rs7741827	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1027904	chr6:119709488-120001986	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv533518	chr6:119712186-119998618	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3442553	chr6:119742069-120076777	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv1845804	chr6:119747112-119771715	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6917635	SH2D1A	trans	lymphoblastoid	seeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119760600-119774800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:119763400-119772200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:119763600-119772200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr6:119768200-119774000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr6:119768200-119780400	Weak transcription	Aorta	Aorta
6	chr6:119768800-119775600	Weak transcription	Brain Anterior Caudate	brain
7	chr6:119770000-119771400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr6:119770000-119771400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:119770000-119771400	Enhancers	GM12878-XiMat	blood
10	chr6:119770000-119772000	Enhancers	Primary B cells from cord blood	blood
11	chr6:119770200-119771400	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:119770200-119771400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:119770200-119771400	Enhancers	Duodenum Mucosa	Duodenum
14	chr6:119770200-119771400	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:119770200-119771400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr6:119770200-119772200	Enhancers	Fetal Intestine Large	intestine
17	chr6:119770400-119771400	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:119770400-119771400	Enhancers	Fetal Intestine Small	intestine
19	chr6:119770400-119774600	Weak transcription	Adipose Nuclei	Adipose
20	chr6:119770400-119774800	Weak transcription	Colon Smooth Muscle	Colon
21	chr6:119770600-119774200	Weak transcription	Spleen	Spleen
22	chr6:119770600-119774400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:119770600-119776000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:119770800-119774200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr6:119770800-119774400	Weak transcription	Dnd41	blood
26	chr6:119770800-119780000	Weak transcription	Gastric	stomach
27	chr6:119771200-119772000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:119771200-119772200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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