Variant report

Variant	rs6731994
Chromosome Location	chr2:233948817-233948818
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:233947227..233949457-chr2:233951983..233954748,2	K562	blood:
2	chr2:233939365..233942307-chr2:233943913..233949317,5	K562	blood:

Variant related genes	Relation type
ENSG00000168918	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11678263	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4246650	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6712404	0.82[AMR][1000 genomes];0.83[ASN][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	nsv876009	chr2:233799400-233996429	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv876012	chr2:233899377-233996429	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233943000-233951400	Genic enhancers	Fetal Thymus	thymus
2	chr2:233943800-233950800	Enhancers	Placenta	Placenta
3	chr2:233945000-233949600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
4	chr2:233945000-233949800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr2:233945400-233949000	Enhancers	Duodenum Mucosa	Duodenum
6	chr2:233945400-233950000	Enhancers	Colonic Mucosa	Colon
7	chr2:233945400-233950200	Enhancers	Fetal Muscle Trunk	muscle
8	chr2:233945800-233952600	Enhancers	Adipose Nuclei	Adipose
9	chr2:233946800-233949200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr2:233946800-233950200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr2:233946800-233951800	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr2:233946800-233952000	Enhancers	Fetal Muscle Leg	muscle
13	chr2:233946800-233958600	Weak transcription	Brain Anterior Caudate	brain
14	chr2:233947000-233950800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr2:233947200-233949200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr2:233947200-233951400	Enhancers	Spleen	Spleen
17	chr2:233947400-233949000	Enhancers	HUVEC	blood vessel
18	chr2:233947400-233949400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr2:233947400-233949600	Genic enhancers	HepG2	liver
20	chr2:233947600-233949000	Enhancers	Left Ventricle	heart
21	chr2:233947600-233949600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
22	chr2:233947600-233949800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr2:233947600-233951200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:233947800-233949000	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
25	chr2:233947800-233949000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:233947800-233949000	Enhancers	Psoas Muscle	Psoas
27	chr2:233947800-233949200	Enhancers	Fetal Stomach	stomach
28	chr2:233947800-233949600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:233947800-233949800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr2:233948000-233949600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr2:233948000-233950400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:233948000-233950800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:233948000-233950800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:233948200-233950000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:233948200-233950200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:233948200-233950400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:233948200-233957800	Weak transcription	Liver	Liver
38	chr2:233948400-233949400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:233948400-233950400	Weak transcription	Lung	lung
40	chr2:233948400-233950400	Weak transcription	Right Atrium	heart
41	chr2:233948400-233952400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:233948400-233953400	Weak transcription	Brain Hippocampus Middle	brain
43	chr2:233948600-233949000	Enhancers	Primary hematopoietic stem cells	blood
44	chr2:233948600-233949000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:233948600-233949000	Enhancers	GM12878-XiMat	blood
46	chr2:233948600-233949200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr2:233948600-233949200	Enhancers	Thymus	Thymus
48	chr2:233948600-233949800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr2:233948600-233950200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:233948600-233950400	Weak transcription	H1 Cell Line	embryonic stem cell

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