Variant report

Variant	rs2027954
Chromosome Location	chr7:126999985-126999986
allele	A/G
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:126989599..126991125-chr7:126999110..127001691,2	K562	blood:
2	chr7:126994441..126996750-chr7:126997785..127000283,3	K562	blood:
3	chr7:126992206..126994276-chr7:126998893..127000633,3	K562	blood:
4	chr7:126999623..127001403-chr7:127005210..127006767,2	MCF-7	breast:
5	chr7:126999289..127001644-chr7:127001695..127003278,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF800-2	chr7:126999844-127004813	NONHSAT123138

No data

Variant related genes	Relation type
ENSG00000224138	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10487480	1.00[CHB][hapmap]
rs11563346	1.00[CHB][hapmap]
rs11563460	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563467	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563628	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563630	1.00[CHB][hapmap]
rs11563634	1.00[CHB][hapmap]
rs11563641	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11563650	1.00[CHB][hapmap]
rs13228039	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13246300	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1361937	1.00[YRI][hapmap]
rs1361938	0.95[YRI][hapmap]
rs1361939	1.00[YRI][hapmap]
rs1419395	1.00[YRI][hapmap]
rs1419396	1.00[YRI][hapmap]
rs1419399	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1419414	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17863291	1.00[CHB][hapmap]
rs17863295	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17863297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17867840	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17867842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2040500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2269729	0.81[CHB][hapmap]
rs2402860	1.00[CHB][hapmap]
rs4731350	0.95[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6467122	1.00[YRI][hapmap]
rs6957320	1.00[YRI][hapmap]
rs6959198	1.00[YRI][hapmap]
rs6972420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7805194	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7805256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs951808	1.00[YRI][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	nsv1017145	chr7:126995304-127015459	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126984400-127000800	Weak transcription	HSMMtube	muscle
2	chr7:126987800-127020600	Weak transcription	Spleen	Spleen
3	chr7:126988200-127001000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr7:126988400-127000000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:126988400-127000000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr7:126988400-127000000	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr7:126988400-127000200	Weak transcription	Adipose Nuclei	Adipose
8	chr7:126988400-127000400	Weak transcription	Hela-S3	cervix
9	chr7:126988400-127000600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:126988400-127000600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr7:126988400-127000600	Weak transcription	Fetal Intestine Large	intestine
12	chr7:126988400-127000800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr7:126988400-127000800	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:126988400-127000800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:126988400-127000800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr7:126988400-127001000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:126988400-127001000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:126988400-127001000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:126988400-127001000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:126988400-127001000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:126988400-127001000	Weak transcription	Aorta	Aorta
23	chr7:126988400-127001000	Weak transcription	Brain Angular Gyrus	brain
24	chr7:126988400-127001000	Weak transcription	Esophagus	oesophagus
25	chr7:126988400-127001000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:126988400-127001000	Weak transcription	Fetal Stomach	stomach
27	chr7:126988400-127001000	Weak transcription	Left Ventricle	heart
28	chr7:126988400-127001000	Weak transcription	Lung	lung
29	chr7:126988400-127001000	Weak transcription	Right Ventricle	heart
30	chr7:126988400-127001000	Weak transcription	Thymus	Thymus
31	chr7:126988400-127001000	Weak transcription	NH-A	brain
32	chr7:126988400-127001000	Weak transcription	NHLF	lung
33	chr7:126988400-127001200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:126988400-127002200	Weak transcription	Fetal Heart	heart
35	chr7:126988400-127004400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:126988400-127006400	Weak transcription	Psoas Muscle	Psoas
37	chr7:126988400-127012600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:126988400-127013000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:126988400-127013000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr7:126988400-127013200	Weak transcription	NHEK	skin
41	chr7:126988400-127013400	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:126988400-127014000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr7:126988400-127030200	Weak transcription	Fetal Intestine Small	intestine
44	chr7:126988400-127031400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr7:126988400-127031400	Weak transcription	Colonic Mucosa	Colon
46	chr7:126988400-127031400	Weak transcription	Pancreas	Pancrea
47	chr7:126988600-127000000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr7:126988600-127000600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:126988600-127000800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr7:126988600-127001000	Weak transcription	Fetal Lung	lung

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