Variant report

Variant	rs2844097
Chromosome Location	chr7:66659856-66659857
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66657820..66660105-chr7:66767390..66769267,2	K562	blood:

Variant related genes	Relation type
ENSG00000067601	Chromatin interaction
ENSG00000106610	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10228308	0.95[CEU][hapmap]
rs10233388	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10234659	0.95[CEU][hapmap]
rs10238245	0.95[CEU][hapmap]
rs10242790	0.95[CEU][hapmap]
rs10268701	0.95[CEU][hapmap]
rs10273692	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs13222146	0.95[CEU][hapmap]
rs17137288	0.95[CEU][hapmap]
rs17144722	0.86[CEU][hapmap]
rs2690147	0.94[CEU][hapmap]
rs4718475	1.00[CEU][hapmap]
rs6460322	0.95[CEU][hapmap]
rs6950170	0.95[CEU][hapmap]
rs6951192	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv831019	chr7:66516808-66720485	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases
5	esv2422035	chr7:66621964-66676630	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv970518	chr7:66647675-66742783	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2844097	TYW1	cis	Heart Left Ventricle	GTEx
rs2844097	TYW1	cis	Brain Pons	GTEx
rs2844097	TYW1	cis	Muscle Skeletal	GTEx

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66621600-66672000	Weak transcription	Fetal Intestine Large	intestine
2	chr7:66628600-66684600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr7:66640600-66677200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:66643000-66660000	Weak transcription	Dnd41	blood
5	chr7:66644400-66683000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:66644800-66660200	Weak transcription	Adipose Nuclei	Adipose
7	chr7:66645000-66660000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:66645800-66660000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr7:66647000-66677400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:66647600-66661400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:66647800-66660000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:66648200-66679800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:66648800-66667200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:66649200-66677200	Weak transcription	Right Ventricle	heart
15	chr7:66649200-66679200	Weak transcription	NHEK	skin
16	chr7:66650000-66660000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:66650600-66661800	Weak transcription	Fetal Stomach	stomach
18	chr7:66651200-66675400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr7:66652800-66675600	Weak transcription	Aorta	Aorta
20	chr7:66654400-66677400	Weak transcription	Esophagus	oesophagus
21	chr7:66654400-66681600	Weak transcription	Spleen	Spleen
22	chr7:66654600-66660200	Weak transcription	Primary T cells from cord blood	blood
23	chr7:66654600-66660200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:66654600-66660200	Weak transcription	Fetal Kidney	kidney
25	chr7:66654600-66661400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:66654600-66678200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:66654600-66683400	Weak transcription	Pancreas	Pancrea
28	chr7:66654600-66684600	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr7:66654600-66704600	Weak transcription	Gastric	stomach
30	chr7:66654600-66709600	Weak transcription	Lung	lung
31	chr7:66655000-66675400	Weak transcription	Thymus	Thymus
32	chr7:66655400-66660200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:66656000-66660000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr7:66656000-66665000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr7:66656000-66677000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr7:66656200-66660000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:66656400-66660200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:66656400-66663200	Weak transcription	Fetal Thymus	thymus
39	chr7:66656400-66663600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:66656400-66668800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:66656400-66672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr7:66656400-66676000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr7:66656600-66671800	Weak transcription	K562	blood
44	chr7:66656600-66675400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:66657200-66660200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr7:66657200-66660200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:66658000-66673600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:66658000-66703200	Weak transcription	Ovary	ovary
49	chr7:66658200-66660000	Weak transcription	Fetal Muscle Leg	muscle
50	chr7:66658200-66660200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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