Variant report

Variant	rs10237442
Chromosome Location	chr7:50350441-50350442
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	chr7:50253301..50255732-chr7:50349910..50352191,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10248631	1.00[AFR][1000 genomes]
rs12112419	1.00[LWK][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10237442	TPBG	trans	lymphoblastoid	seeQTL

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50345400-50351000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:50346000-50353000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:50346200-50350800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:50346400-50350600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr7:50347200-50353600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr7:50347200-50353800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:50347400-50353800	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr7:50347600-50353600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr7:50347800-50350600	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr7:50348400-50351000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:50348400-50353000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:50348600-50350600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:50348600-50354400	Weak transcription	Spleen	Spleen
14	chr7:50348800-50350600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:50348800-50351000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr7:50348800-50351600	Active TSS	Fetal Thymus	thymus
17	chr7:50348800-50353000	Active TSS	Thymus	Thymus
18	chr7:50349200-50350600	Active TSS	Duodenum Mucosa	Duodenum
19	chr7:50349200-50353600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr7:50349200-50354200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:50349600-50350600	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr7:50349600-50354400	Weak transcription	Colonic Mucosa	Colon
23	chr7:50349600-50357600	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:50349800-50351600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:50349800-50351600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:50349800-50352000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr7:50349800-50352200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr7:50349800-50352400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:50350000-50350600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr7:50350000-50350600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr7:50350000-50350600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:50350000-50350600	Flanking Active TSS	GM12878-XiMat	blood
33	chr7:50350000-50350800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:50350000-50351000	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr7:50350000-50352200	Transcr. at gene 5' and 3'	K562	blood
36	chr7:50350000-50352400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr7:50350000-50352600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr7:50350000-50353400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:50350200-50351600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:50350200-50352000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:50350200-50353600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
42	chr7:50350400-50351600	Enhancers	Primary hematopoietic stem cells	blood
43	chr7:50350400-50351800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:50350400-50351800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr7:50350400-50352000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
46	chr7:50350400-50352400	Flanking Active TSS	Dnd41	blood
47	chr7:50350400-50352800	Weak transcription	Rectal Mucosa Donor 31	rectum

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