Variant report

Variant	rs4973608
Chromosome Location	chr2:233963969-233963970
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	chr2:233963415..233964042-chr2:234159910..234160577,2	MCF-7	breast:
2	chr2:233956193..233959319-chr2:233960178..233964137,4	K562	blood:

Variant related genes	Relation type
ENSG00000085978	Chromatin interaction

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

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

rs_ID	r²[population]
rs13396115	1.00[CHB][hapmap]
rs4315512	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4973599	1.00[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233948600-233971800	Weak transcription	Right Ventricle	heart
2	chr2:233949800-233965000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr2:233951800-233965200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:233953800-233964000	Weak transcription	Dnd41	blood
5	chr2:233953800-233964800	Weak transcription	HepG2	liver
6	chr2:233953800-233965000	Weak transcription	Lung	lung
7	chr2:233954200-233965600	Weak transcription	Brain Hippocampus Middle	brain
8	chr2:233957400-233964200	Weak transcription	Thymus	Thymus
9	chr2:233957600-233969200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:233958800-233977600	Weak transcription	Left Ventricle	heart
11	chr2:233959800-233964000	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr2:233960800-233964200	Genic enhancers	Primary B cells from cord blood	blood
13	chr2:233961800-233965000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:233961800-233966200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:233962000-233964800	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:233962400-233964800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:233962400-233964800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr2:233962400-233965600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr2:233962600-233964000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:233962600-233965000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:233962600-233965200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr2:233962600-233967200	Genic enhancers	Primary hematopoietic stem cells	blood
23	chr2:233962800-233964200	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr2:233962800-233964200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
25	chr2:233962800-233964600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
26	chr2:233962800-233967200	Enhancers	Spleen	Spleen
27	chr2:233963000-233964000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:233963000-233964200	Strong transcription	Fetal Thymus	thymus
29	chr2:233963000-233964800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr2:233963000-233965400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:233963200-233964000	Weak transcription	Primary T cells from cord blood	blood
32	chr2:233963200-233964000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:233963200-233964000	Weak transcription	Duodenum Mucosa	Duodenum
34	chr2:233963200-233964000	Genic enhancers	GM12878-XiMat	blood
35	chr2:233963200-233964800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr2:233963400-233964400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr2:233963600-233965000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr2:233963800-233964000	Weak transcription	Pancreas	Pancrea
39	chr2:233963800-233965400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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