Variant report

Variant	rs4141635
Chromosome Location	chr2:179284012-179284013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179283825..179285745-chr2:179306840..179309735,2	K562	blood:
2	chr2:179283998..179286629-chr2:179290509..179293142,4	K562	blood:
3	chr2:179262549..179264422-chr2:179283581..179285959,2	K562	blood:
4	chr2:178974271..178975212-chr2:179283614..179284146,3	MCF-7	breast:
5	chr2:178974511..178975026-chr2:179283583..179284286,2	K562	blood:
6	chr2:178848009..178848559-chr2:179283599..179284557,2	MCF-7	breast:
7	chr2:179282534..179284171-chr2:179315611..179317555,2	MCF-7	breast:
8	chr2:179283660..179286192-chr2:179343062..179344781,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204311	Chromatin interaction
ENSG00000079150	Chromatin interaction
ENSG00000180228	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17354544	1.00[GIH][hapmap]
rs2249737	0.83[ASW][hapmap];0.81[LWK][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834466	chr2:179140792-179284778	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv979349	chr2:179279539-179296355	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179278800-179291200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:179278800-179292800	Weak transcription	Spleen	Spleen
3	chr2:179278800-179293200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:179278800-179298800	Weak transcription	Small Intestine	intestine
5	chr2:179279400-179291200	Weak transcription	Lung	lung
6	chr2:179279600-179291200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:179279600-179295000	Weak transcription	Right Ventricle	heart
8	chr2:179279600-179298800	Weak transcription	Colonic Mucosa	Colon
9	chr2:179279800-179286200	Weak transcription	Aorta	Aorta
10	chr2:179279800-179291000	Weak transcription	Thymus	Thymus
11	chr2:179279800-179291200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:179279800-179291200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:179279800-179291200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:179279800-179291200	Weak transcription	Left Ventricle	heart
15	chr2:179279800-179291200	Weak transcription	Ovary	ovary
16	chr2:179279800-179293800	Weak transcription	Placenta	Placenta
17	chr2:179279800-179295400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:179279800-179299200	Weak transcription	Esophagus	oesophagus
19	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
20	chr2:179280000-179284400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:179280000-179285200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr2:179280000-179285400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr2:179280000-179286000	Weak transcription	Primary T cells from cord blood	blood
24	chr2:179280000-179286400	Weak transcription	Primary B cells from cord blood	blood
25	chr2:179280000-179287200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:179280000-179287400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:179280000-179289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:179280000-179290000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:179280000-179290400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:179280000-179291200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:179280000-179291200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:179280000-179291200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:179280000-179291200	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:179280000-179291200	Weak transcription	Fetal Thymus	thymus
35	chr2:179280000-179291200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:179280000-179291200	Weak transcription	NH-A	brain
37	chr2:179280000-179291400	Weak transcription	A549	lung
38	chr2:179280000-179291600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr2:179280000-179292600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:179280000-179293600	Weak transcription	Liver	Liver
41	chr2:179280000-179293800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:179280000-179294000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:179280000-179296800	Weak transcription	NHLF	lung
44	chr2:179280000-179297600	Weak transcription	Hela-S3	cervix
45	chr2:179280000-179298400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:179280000-179305200	Weak transcription	Fetal Brain Male	brain
47	chr2:179280000-179310600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:179280200-179284600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:179280200-179284800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:179280200-179285200	Weak transcription	Primary monocytes fromperipheralblood	blood

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