Variant report

Variant	rs75667073
Chromosome Location	chr2:234467266-234467267
allele	A/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:234392005..234393999-chr2:234465226..234467759,2	MCF-7	breast:
2	chr2:234465521..234470756-chr2:234471453..234476730,10	MCF-7	breast:
3	chr2:234467119..234468871-chr2:234606248..234608879,2	MCF-7	breast:
4	chr2:234464618..234469702-chr2:234598682..234603333,7	MCF-7	breast:
5	chr2:234394050..234398896-chr2:234464004..234468219,7	MCF-7	breast:
6	chr2:234395132..234400709-chr2:234463204..234468540,10	MCF-7	breast:
7	chr2:234465964..234468477-chr2:234472532..234475294,2	K562	blood:
8	chr2:234466977..234469529-chr2:234473794..234475392,2	K562	blood:
9	chr2:234460739..234462307-chr2:234463991..234467615,3	K562	blood:
10	chr2:234428819..234430328-chr2:234465881..234468297,2	MCF-7	breast:
11	chr2:234463856..234470010-chr2:234471624..234476696,15	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv519876	chr2:234466843-234493048	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
2	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
3	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
6	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:234430800-234472800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:234432000-234467600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
10	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
11	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:234441600-234474800	Weak transcription	Gastric	stomach
13	chr2:234442400-234474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr2:234447800-234474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:234451200-234474200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:234453200-234474400	Weak transcription	Small Intestine	intestine
17	chr2:234453600-234474000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr2:234455400-234468400	Weak transcription	Fetal Intestine Small	intestine
19	chr2:234455400-234474400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr2:234456600-234474000	Weak transcription	Fetal Brain Male	brain
21	chr2:234457400-234474000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:234459200-234469800	Strong transcription	Liver	Liver
23	chr2:234459600-234470000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr2:234459800-234469200	Strong transcription	HepG2	liver
25	chr2:234460000-234469800	Strong transcription	Adipose Nuclei	Adipose
26	chr2:234460600-234474000	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:234461400-234469600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:234461800-234474000	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:234462400-234467600	Weak transcription	Fetal Kidney	kidney
30	chr2:234462600-234467400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:234463000-234474200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:234463200-234473400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:234464200-234467400	Strong transcription	Fetal Stomach	stomach
34	chr2:234464800-234468600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:234464800-234469600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:234465000-234469600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr2:234465200-234468200	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr2:234465400-234468000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:234465400-234468000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:234465800-234467400	Strong transcription	Left Ventricle	heart
41	chr2:234465800-234468000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr2:234465800-234469200	Strong transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:234465800-234469600	Strong transcription	Duodenum Mucosa	Duodenum
44	chr2:234465800-234472400	Weak transcription	K562	blood
45	chr2:234466000-234467600	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr2:234466000-234468800	Weak transcription	Stomach Mucosa	stomach
47	chr2:234466000-234474000	Weak transcription	Brain Substantia Nigra	brain
48	chr2:234466000-234474600	Weak transcription	Pancreas	Pancrea
49	chr2:234466200-234467400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr2:234466200-234467800	Strong transcription	Right Ventricle	heart

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