Variant report

Variant	rs6738048
Chromosome Location	chr2:234430918-234430919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234390637..234392583-chr2:234428412..234431131,2	K562	blood:
2	chr2:234429265..234431745-chr2:234437273..234439268,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17868322	1.00[ASW][hapmap]
rs58471039	1.00[AFR][1000 genomes]
rs6732036	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs73996108	1.00[AFR][1000 genomes]
rs73996122	1.00[AFR][1000 genomes]
rs73996123	0.91[AFR][1000 genomes]
rs73996125	0.95[AFR][1000 genomes]
rs73996126	0.91[AFR][1000 genomes]
rs73996127	0.95[AFR][1000 genomes]
rs73997632	0.82[AFR][1000 genomes]
rs73997636	0.82[AFR][1000 genomes]
rs7562104	0.82[AFR][1000 genomes]
rs7588587	0.85[YRI][hapmap]
rs7594222	1.00[YRI][hapmap]
rs7599218	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	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234387400-234466000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr2:234390800-234441000	Weak transcription	Fetal Brain Male	brain
3	chr2:234395600-234431800	Weak transcription	Colonic Mucosa	Colon
4	chr2:234398000-234452800	Weak transcription	HUVEC	blood vessel
5	chr2:234398400-234442400	Weak transcription	Hela-S3	cervix
6	chr2:234398600-234431800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:234402200-234472400	Weak transcription	Psoas Muscle	Psoas
8	chr2:234402600-234436800	Weak transcription	Gastric	stomach
9	chr2:234402600-234454000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:234404400-234455000	Weak transcription	Fetal Thymus	thymus
11	chr2:234405000-234431200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:234407800-234431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:234407800-234436800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:234411400-234432400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:234411600-234431800	Weak transcription	Lung	lung
16	chr2:234411600-234465600	Weak transcription	Thymus	Thymus
17	chr2:234412400-234437600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:234412600-234437400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:234413000-234431000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
21	chr2:234413200-234431400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:234413200-234440600	Weak transcription	Dnd41	blood
23	chr2:234413400-234431200	Weak transcription	NHEK	skin
24	chr2:234414000-234461800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:234415400-234440600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:234416200-234441200	Weak transcription	Fetal Kidney	kidney
27	chr2:234416200-234441800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:234418600-234436400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:234420000-234431200	Weak transcription	Ovary	ovary
30	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:234423600-234439600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:234423800-234432600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:234423800-234441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr2:234424400-234431800	Weak transcription	HSMMtube	muscle
35	chr2:234424600-234433600	Weak transcription	K562	blood
36	chr2:234425600-234431200	Weak transcription	Fetal Stomach	stomach
37	chr2:234425600-234432400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:234426400-234453600	Weak transcription	NH-A	brain
40	chr2:234427000-234466200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr2:234427200-234431600	Enhancers	Primary B cells from peripheral blood	blood
42	chr2:234427200-234438200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:234427200-234438200	Strong transcription	Liver	Liver
44	chr2:234427200-234438200	Strong transcription	Placenta	Placenta
45	chr2:234427200-234438400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:234427200-234438400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:234427400-234431800	Weak transcription	Spleen	Spleen
48	chr2:234427400-234432800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:234427400-234432800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr2:234427400-234433200	Strong transcription	Stomach Smooth Muscle	stomach

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