Variant report

Variant	rs1931996
Chromosome Location	chr6:142470708-142470709
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:142468629..142470840-chr6:142474904..142476440,2	K562	blood:
2	chr6:142470533..142472236-chr6:142476885..142478577,2	K562	blood:
3	chr6:142470687..142472679-chr6:142481549..142483699,2	K562	blood:
4	chr6:4691449..4692204-chr6:142470501..142471255,2	MCF-7	breast:
5	chr6:142470468..142472219-chr6:144162798..144164527,2	K562	blood:
6	chr6:142469818..142472806-chr6:142621459..142623184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135521	Chromatin interaction
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4896580	0.84[CEU][hapmap]
rs9385985	0.83[CEU][hapmap]
rs9484600	0.84[CEU][hapmap]

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	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv886733	chr6:142316672-142514226	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830824	chr6:142361107-142544929	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv886735	chr6:142365171-142472294	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv886736	chr6:142365171-142523865	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1931996	CITED2	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142467600-142470800	Active TSS	GM12878-XiMat	blood
2	chr6:142468800-142472200	Weak transcription	Pancreas	Pancrea
3	chr6:142468800-142488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:142469200-142471000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:142469200-142471000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:142469200-142471600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:142469200-142477000	Weak transcription	Stomach Mucosa	stomach
8	chr6:142469200-142483400	Weak transcription	Aorta	Aorta
9	chr6:142469200-142487800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr6:142469400-142470800	Enhancers	Fetal Intestine Large	intestine
11	chr6:142469400-142471600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr6:142469600-142470800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:142469600-142470800	Enhancers	Brain Angular Gyrus	brain
14	chr6:142469600-142470800	Enhancers	Brain Anterior Caudate	brain
15	chr6:142469600-142470800	Enhancers	Brain Hippocampus Middle	brain
16	chr6:142469600-142471000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr6:142469600-142471000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr6:142469600-142471600	Weak transcription	Left Ventricle	heart
19	chr6:142469600-142472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:142469600-142487800	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:142469600-142487800	Weak transcription	Thymus	Thymus
22	chr6:142469800-142470800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr6:142469800-142471000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr6:142469800-142472600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:142469800-142481200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:142469800-142487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:142470000-142470800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:142470000-142470800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:142470000-142470800	Transcr. at gene 5' and 3'	HepG2	liver
30	chr6:142470000-142471400	Weak transcription	Fetal Thymus	thymus
31	chr6:142470000-142472000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:142470000-142476600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:142470000-142477000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:142470000-142477200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:142470000-142481400	Weak transcription	Gastric	stomach
36	chr6:142470000-142484000	Weak transcription	Psoas Muscle	Psoas
37	chr6:142470000-142486400	Weak transcription	Fetal Intestine Small	intestine
38	chr6:142470200-142470800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:142470200-142470800	Weak transcription	Colon Smooth Muscle	Colon
40	chr6:142470200-142472000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:142470200-142474000	Weak transcription	NH-A	brain
42	chr6:142470200-142484000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:142470200-142487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:142470200-142488200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:142470200-142488200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr6:142470200-142491800	Weak transcription	Fetal Stomach	stomach
47	chr6:142470200-142493600	Weak transcription	HSMMtube	muscle
48	chr6:142470200-142504000	Weak transcription	Spleen	Spleen
49	chr6:142470400-142470800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr6:142470400-142471000	Enhancers	Primary T cells from cord blood	blood

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