Variant report

Variant	rs10001690
Chromosome Location	chr4:129232129-129232130
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129231199..129233668-chr4:129273804..129276648,2	MCF-7	breast:
2	chr4:129228838..129233449-chr4:129235389..129238909,4	K562	blood:
3	chr4:129209873..129215080-chr4:129231419..129235884,6	MCF-7	breast:
4	chr4:129230478..129232690-chr4:129242165..129243928,2	MCF-7	breast:
5	chr4:129207824..129213025-chr4:129228843..129234076,8	MCF-7	breast:
6	chr4:129220512..129222089-chr4:129230473..129232816,2	K562	blood:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction
ENSG00000251432	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13434901	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs15388	1.00[CHD][hapmap]
rs17013265	1.00[MEX][hapmap]
rs17013357	1.00[MEX][hapmap]
rs4417984	1.00[CHD][hapmap]
rs6845290	0.87[ASW][hapmap];1.00[MEX][hapmap]

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	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 miRNA target site	79 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	chr4:129210200-129245800	Weak transcription	Esophagus	oesophagus
2	chr4:129210400-129235800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:129210400-129238000	Weak transcription	Thymus	Thymus
4	chr4:129210400-129240000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:129210400-129246400	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:129210400-129247600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:129210600-129249800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:129210800-129233000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:129211000-129244200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr4:129211000-129246400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr4:129211200-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:129211200-129248200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr4:129211200-129254400	Weak transcription	Brain Substantia Nigra	brain
14	chr4:129218800-129235200	Weak transcription	Placenta	Placenta
15	chr4:129221600-129247000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:129222200-129264200	Weak transcription	Fetal Thymus	thymus
17	chr4:129223200-129244000	Weak transcription	Brain Hippocampus Middle	brain
18	chr4:129225200-129252200	Weak transcription	Spleen	Spleen
19	chr4:129226200-129233800	Enhancers	Fetal Intestine Large	intestine
20	chr4:129226200-129233800	Enhancers	Fetal Intestine Small	intestine
21	chr4:129226600-129236800	Weak transcription	Primary T cells from cord blood	blood
22	chr4:129226600-129244000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:129226800-129236600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:129226800-129243000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:129226800-129244200	Weak transcription	Primary B cells from cord blood	blood
26	chr4:129227400-129243000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:129227600-129242800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:129228000-129239000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:129228200-129233600	Enhancers	Fetal Heart	heart
30	chr4:129228200-129234600	Enhancers	Stomach Mucosa	stomach
31	chr4:129229000-129233000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:129229000-129242400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:129229000-129243200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr4:129229200-129239600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:129230000-129246600	Weak transcription	Brain Angular Gyrus	brain
36	chr4:129230200-129232200	Enhancers	Fetal Muscle Leg	muscle
37	chr4:129230200-129233800	Enhancers	Liver	Liver
38	chr4:129230400-129232600	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:129230800-129234600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:129231000-129232400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr4:129231000-129233000	Enhancers	Pancreas	Pancrea
42	chr4:129231000-129233000	Enhancers	Small Intestine	intestine
43	chr4:129231600-129236200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr4:129231600-129236800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:129231600-129242800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:129231600-129251200	Weak transcription	Aorta	Aorta
47	chr4:129231800-129232600	Enhancers	Duodenum Mucosa	Duodenum
48	chr4:129231800-129232800	Weak transcription	Psoas Muscle	Psoas
49	chr4:129231800-129234200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:129231800-129234200	Weak transcription	Gastric	stomach

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