Variant report

Variant	rs6949446
Chromosome Location	chr7:127698403-127698404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127696497..127699429-chr7:127710234..127711960,2	K562	blood:
2	chr7:127661672..127664350-chr7:127696430..127698660,2	MCF-7	breast:
3	chr7:127675207..127677284-chr7:127698016..127699681,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1108809	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11977684	0.87[EUR][1000 genomes]
rs1468702	0.85[MEX][hapmap];0.81[MKK][hapmap]
rs17151567	0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap]
rs17151650	1.00[CHB][hapmap]
rs2402873	0.82[YRI][hapmap]
rs4728082	0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs4728084	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[ASN][1000 genomes]
rs4728085	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[ASN][1000 genomes]
rs4731390	0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs4731391	1.00[MEX][hapmap]
rs4731392	0.91[ASN][1000 genomes]
rs55998540	0.87[EUR][1000 genomes]
rs6467154	0.91[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap]
rs6966724	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791000	0.89[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap]
rs7800110	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7810883	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 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	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127670400-127698800	Weak transcription	Dnd41	blood
4	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
5	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr7:127678000-127701200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr7:127680400-127698600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:127683200-127700600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:127684400-127701400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:127685000-127710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
17	chr7:127691400-127699200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:127692800-127698800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr7:127692800-127699600	Weak transcription	Left Ventricle	heart
20	chr7:127692800-127703200	Weak transcription	Pancreas	Pancrea
21	chr7:127692800-127714400	Weak transcription	Right Ventricle	heart
22	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
23	chr7:127693000-127698600	Weak transcription	Primary B cells from peripheral blood	blood
24	chr7:127693200-127718400	Weak transcription	HMEC	breast
25	chr7:127693400-127701800	Weak transcription	Fetal Muscle Leg	muscle
26	chr7:127693400-127703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr7:127693400-127706400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr7:127693400-127708800	Strong transcription	Fetal Intestine Small	intestine
29	chr7:127693400-127711600	Weak transcription	Adipose Nuclei	Adipose
30	chr7:127693400-127714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
32	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
33	chr7:127693600-127710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:127693800-127699400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:127693800-127701200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr7:127693800-127702000	Weak transcription	Brain Angular Gyrus	brain
37	chr7:127694200-127707000	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr7:127694400-127706400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr7:127694400-127707400	Weak transcription	Placenta	Placenta
40	chr7:127694400-127713600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:127694400-127716800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr7:127694600-127703000	Weak transcription	Gastric	stomach
43	chr7:127694600-127707200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr7:127694600-127707400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:127694800-127717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr7:127695400-127698600	Enhancers	NH-A	brain
48	chr7:127695400-127701200	Weak transcription	Fetal Kidney	kidney
49	chr7:127695600-127698800	Enhancers	HSMMtube	muscle
50	chr7:127695800-127699400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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