Variant report

Variant	rs72999507
Chromosome Location	chr4:174171611-174171612
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:174165318..174167966-chr4:174170925..174173623,3	K562	blood:
2	chr4:174169794..174173142-chr4:174173301..174175133,3	K562	blood:
3	chr4:174088455..174090796-chr4:174170923..174173509,2	K562	blood:
4	chr4:174163471..174166786-chr4:174169920..174173418,4	MCF-7	breast:
5	chr4:174167840..174170024-chr4:174170723..174173442,2	K562	blood:

Variant related genes	Relation type
ENSG00000245213	Chromatin interaction
ENSG00000109586	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11933771	1.00[EUR][1000 genomes]
rs56149013	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799519	chr4:174090004-174173743	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr4:174142200-174173400	Weak transcription	Lung	lung
3	chr4:174148000-174173400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:174150200-174173400	Weak transcription	Small Intestine	intestine
5	chr4:174152600-174173400	Weak transcription	Left Ventricle	heart
6	chr4:174158200-174172600	Weak transcription	K562	blood
7	chr4:174158600-174173000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr4:174158800-174172200	Weak transcription	Brain Substantia Nigra	brain
9	chr4:174159200-174172600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:174159200-174172600	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:174159200-174175200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:174159200-174204600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:174159600-174189000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:174160800-174172400	Weak transcription	Brain Anterior Caudate	brain
15	chr4:174160800-174172600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr4:174163800-174184600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:174164000-174173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr4:174164000-174177000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr4:174164000-174185600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:174164000-174185800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:174164000-174186000	Weak transcription	Aorta	Aorta
22	chr4:174164200-174185400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr4:174164800-174178800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:174165000-174173200	Weak transcription	Hela-S3	cervix
25	chr4:174165400-174172800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr4:174165600-174173200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:174165600-174173200	Weak transcription	Esophagus	oesophagus
28	chr4:174165600-174173400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:174165600-174176200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:174165600-174182200	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:174168200-174173400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:174168200-174179000	Genic enhancers	Dnd41	blood
33	chr4:174168400-174172600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:174168400-174177400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr4:174168600-174172000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr4:174168600-174172400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:174168600-174172800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr4:174168600-174174400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:174168600-174185800	Weak transcription	Brain Germinal Matrix	brain
40	chr4:174168800-174171800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:174168800-174173200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr4:174168800-174173200	Genic enhancers	Thymus	Thymus
43	chr4:174169000-174171800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:174169000-174172800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:174169000-174175000	Genic enhancers	Fetal Thymus	thymus
46	chr4:174169200-174171800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr4:174169200-174172000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr4:174169200-174172200	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr4:174169200-174172400	Weak transcription	HSMMtube	muscle
50	chr4:174169200-174172600	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links